R71H (p.Arg71His) variant of ERCC5 (P28715)
R71H (p.Arg71His) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum, group G. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R71H (p.Arg71His) variant details
- p.Arg71His
- rs587778293
- ClinGen CA159006
- ClinVar RCV000120849
- ClinVar RCV001109708
- Uncertain significance
- Xeroderma pigmentosum, group G
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group G)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)