W64* (p.Trp64Ter) variant of POLH (DNA polymerase eta)
W64* (p.Trp64Ter) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W64* (p.Trp64Ter) variant details
- p.Trp64Ter
- gnomAD 6-43583061-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available