D67G (p.Asp67Gly) variant of POLH (DNA polymerase eta)
D67G (p.Asp67Gly) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D67G (p.Asp67Gly) variant details
- p.Asp67Gly
- gnomAD 6-43583069-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 28.50
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available