V8V (p.Val8Val) variant of POLH (DNA polymerase eta)
V8V (p.Val8Val) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V8V (p.Val8Val) variant details
- p.Val8Val
- rs757358672
- gnomAD 6-43582343-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 8.94
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available