V40A (p.Val40Ala) variant of POLR1D (P0DPB6)
V40A (p.Val40Ala) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- gnomAD rs1275701517
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 0.60
- SIFT 0.63
- Population evidence available
- Structural context available