C12R (p.Cys12Arg) variant of ERCC5 (P28715)
C12R (p.Cys12Arg) 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 0.31 / 1.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- rs1566461950
- NCI-TCGA Cosmic COSV9995
- cosmic curated COSV99958
- TOPMed rs1566461950
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -1.07
- PolyPhen-2 0.06
- SIFT 0.57
- MutPred 0.52
- UniProt: Variant assessed as somatic; moderate impact.