G45V (p.Gly45Val) variant of POLH (DNA polymerase eta)
G45V (p.Gly45Val) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G45V (p.Gly45Val) variant details
- p.Gly45Val
- gnomAD 6-43582451-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 32.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available