R55C (p.Arg55Cys) variant of POLH (DNA polymerase eta)
R55C (p.Arg55Cys) 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 0.80 / 1. The record also includes population frequency data and structural context.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- rs1392899966
- TOPMed rs1392899966
- gnomAD rs1392899966
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.85
- MetaSVM 0.89
- CADD 28.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available