G46A (p.Gly46Ala) variant of POLH (DNA polymerase eta)
G46A (p.Gly46Ala) 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.
G46A (p.Gly46Ala) variant details
- p.Gly46Ala
- gnomAD 6-43582456-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.39
- MetaSVM -0.33
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available