R71C (p.Arg71Cys) variant of ERCC5 (P28715)
R71C (p.Arg71Cys) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R71C (p.Arg71Cys) variant details
- p.Arg71Cys
- rs1400329743
- ClinGen CA388566967
- NCI-TCGA Cosmic COSV6324
- cosmic curated COSV63244
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available