V36V (p.Val36Val) variant of POLH (DNA polymerase eta)
V36V (p.Val36Val) 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.
V36V (p.Val36Val) variant details
- p.Val36Val
- rs766284431
- gnomAD 6-43582427-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.36
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00013)
- Structural context available
- Literature evidence available