E2K (p.Glu2Lys) variant of POLR1D (P0DPB6)
E2K (p.Glu2Lys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 13-27621987-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.35
- CADD 26.40
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available