A2A (p.Ala2Ala) variant of POLH (DNA polymerase eta)
A2A (p.Ala2Ala) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 6-43582325-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available