R125C (p.Arg125Cys) variant of ERCC2 (P18074)
R125C (p.Arg125Cys) in ERCC2 (P18074) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R125C (p.Arg125Cys) variant details
- p.Arg125Cys
- rs372425466
- ClinGen CA9513809
- cosmic curated COSV10583
- ClinVar RCV001900953
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.78
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)