H28H (p.His28His) variant of POLH (DNA polymerase eta)
H28H (p.His28His) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H28H (p.His28His) variant details
- p.His28His
- gnomAD 6-43582403-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.05
- Population evidence available
- Structural context available
- Literature evidence available