E8K (p.Glu8Lys) variant of POLR1D (P0DPB6)
E8K (p.Glu8Lys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- gnomAD 13-27622005-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available