R30S (p.Arg30Ser) variant of POLH (DNA polymerase eta)
R30S (p.Arg30Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- ESP rs368375817
- ExAC rs368375817
- TOPMed rs368375817
- gnomAD rs368375817
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.32
- MetaSVM -0.47
- CADD 22.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available