D67E (p.Asp67Glu) variant of POLH (DNA polymerase eta)
D67E (p.Asp67Glu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D67E (p.Asp67Glu) variant details
- p.Asp67Glu
- gnomAD 6-43583070-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available