UNC13D: c.305G>A p.Arg102Gln


Bibliography:

Biallelic:

-

Monoallelic:

Yes

Described >1 patient:

-

Functional Studies:

Yes

Information from in silico tools

Predictor Score Label
CADD v1.5 13.59 Neutral
PolyPhen-2 0.005 Benign
PON-P2 0.148 Neutral
SIFT 0.223 Tolerated

Disclaimer The information on this database is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. The authors are not responsible for neither its use nor misuse. The authors have worked with care in the development of this server, but assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.

Interpreting the variant


Learn more about the variant

Clinical Evidence ClinVar -
UniProt -
Biological Relevance Functional residue domain C2 1
Variant Information dbSNP rs778208597
Ensembl variant
Population Allele Frequency ExAC 9e-06
gnomAD 1.6e-05

Explore the biomedical information

Disease Protein Gene
DECIPHER Reactome Ensembl
HPO STRING GeneCards
GeneReviews UniProt HGNC
MalaCards NCBI
MedGen OMIM
OMIM
Orphanet

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