V13C (p.Val13Cys) variant of POLD1 (P28340)
V13C (p.Val13Cys) in POLD1 (P28340) is a protein-truncating 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.
V13C (p.Val13Cys) variant details
- p.Val13Cys
- gnomAD 19-50398884-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available