G805R (p.Gly805Arg) variant of ERCC5 (P28715)
G805R (p.Gly805Arg) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Xeroderma pigmentosum; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G805R (p.Gly805Arg) variant details
- p.Gly805Arg
- rs899478069
- ClinGen CA255229275
- ClinVar RCV001200393
- ClinVar RCV001844271
- Pathogenic/Likely pathogenic
- Xeroderma pigmentosum; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Xeroderma pigmentosum; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)