A818V (p.Ala818Val) variant of ERCC5 (P28715)
A818V (p.Ala818Val) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
A818V (p.Ala818Val) variant details
- p.Ala818Val
- rs774078839
- ClinGen CA7041643
- cosmic curated COSV10086
- ClinVar RCV001291297
- Pathogenic/Likely pathogenic
- not provided; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Xeroderma pigmentosum)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)