R45C (p.Arg45Cys) variant of ERCC5 (P28715)
R45C (p.Arg45Cys) in ERCC5 (P28715) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- rs569799893
- cosmic curated COSV10591
- 1000Genomes rs569799893
- ExAC rs569799893
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available