R81H (p.Arg81His) variant of POLH (DNA polymerase eta)
R81H (p.Arg81His) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R81H (p.Arg81His) variant details
- p.Arg81His
- ESP rs370219191
- ExAC rs370219191
- gnomAD rs370219191
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.24
- MetaSVM -0.84
- CADD 18.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00057)
- Structural context available