R24W (p.Arg24Trp) variant of POLH (DNA polymerase eta)
R24W (p.Arg24Trp) 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 0.69 / 1. The record also includes population frequency data and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- NCI-TCGA Cosmic COSV6478
- cosmic curated COSV64781
- Ensembl rs2127773135
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.59
- MetaSVM 0.32
- CADD 28.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available