R81C (p.Arg81Cys) variant of POLH (DNA polymerase eta)
R81C (p.Arg81Cys) in POLH (DNA polymerase eta) 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 0.52 / 1. The record also includes population frequency data and structural context.
R81C (p.Arg81Cys) variant details
- p.Arg81Cys
- rs113074920
- cosmic curated COSV64779
- ESP rs113074920
- ExAC rs113074920
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.59
- MetaSVM 0.30
- CADD 28.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available