A78A (p.Ala78Ala) variant of POLH (DNA polymerase eta)
A78A (p.Ala78Ala) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A78A (p.Ala78Ala) variant details
- p.Ala78Ala
- gnomAD 6-43583103-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 13.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available