R84C (p.Arg84Cys) variant of POLH (DNA polymerase eta)
R84C (p.Arg84Cys) 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 0.64 / 1. The record also includes population frequency data and structural context.
R84C (p.Arg84Cys) variant details
- p.Arg84Cys
- rs762176747
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10094
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.76
- MetaSVM 0.56
- CADD 29.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available