R55H (p.Arg55His) variant of POLH (DNA polymerase eta)
R55H (p.Arg55His) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- ExAC rs767635175
- TOPMed rs767635175
- gnomAD rs767635175
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.85
- MetaSVM 0.89
- CADD 29.20
- Most common in the Latino/Admixed American population (allele frequency 0.00072)
- Structural context available