D66A (p.Asp66Ala) variant of POLH (DNA polymerase eta)
D66A (p.Asp66Ala) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D66A (p.Asp66Ala) variant details
- p.Asp66Ala
- gnomAD 6-43583066-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 23.20
- PolyPhen-2 0.39
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available