V40K (p.Val40Lys) variant of POLR1D (P0DPB6)
V40K (p.Val40Lys) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V40K (p.Val40Lys) variant details
- p.Val40Lys
- gnomAD 13-27622009-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available