A54A (p.Ala54Ala) variant of POLH (DNA polymerase eta)
A54A (p.Ala54Ala) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- rs1582271903
- gnomAD 6-43583031-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.28
- Population evidence available
- Structural context available
- Literature evidence available