A65E (p.Ala65Glu) variant of POLH (DNA polymerase eta)
A65E (p.Ala65Glu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A65E (p.Ala65Glu) variant details
- p.Ala65Glu
- gnomAD 6-43583063-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available