H28R (p.His28Arg) variant of POLH (DNA polymerase eta)
H28R (p.His28Arg) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H28R (p.His28Arg) variant details
- p.His28Arg
- gnomAD 6-43582402-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.18
- ESM-1b 0.01
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -0.99
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available