E8V (p.Glu8Val) variant of POLR1D (P0DPB6)
E8V (p.Glu8Val) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E8V (p.Glu8Val) variant details
- p.Glu8Val
- gnomAD 13-27622006-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.45
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available