H28Y (p.His28Tyr) variant of POLH (DNA polymerase eta)
H28Y (p.His28Tyr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H28Y (p.His28Tyr) variant details
- p.His28Tyr
- gnomAD 6-43582401-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.29
- ESM-1b 0.62
- AlphaMissense 0.08
- MetaLR 0.16
- MetaSVM -0.85
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available