A33V (p.Ala33Val) variant of POLR1D (P0DPB6)
A33V (p.Ala33Val) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- gnomAD rs1294065662
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.24
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.24
- Population evidence available
- Structural context available