V12V (p.Val12Val) variant of POLH (DNA polymerase eta)
V12V (p.Val12Val) 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.
V12V (p.Val12Val) variant details
- p.Val12Val
- gnomAD 6-43582355-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 9.95
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available