E3V (p.Glu3Val) variant of POLR1D (P0DPB6)
E3V (p.Glu3Val) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- gnomAD 13-27621991-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.40
- CADD 26.20
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available