V19C (p.Val19Cys) variant of POLH (DNA polymerase eta)
V19C (p.Val19Cys) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V19C (p.Val19Cys) variant details
- p.Val19Cys
- rs1308019449
- gnomAD 6-43582366-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available