L38W (p.Leu38Trp) variant of POLD1 (P28340)
L38W (p.Leu38Trp) in POLD1 (P28340) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L38W (p.Leu38Trp) variant details
- p.Leu38Trp
- rs2038477468
- gnomAD 19-50398961-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available