K10E (p.Lys10Glu) variant of POLR1D (P0DPB6)
K10E (p.Lys10Glu) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K10E (p.Lys10Glu) variant details
- p.Lys10Glu
- gnomAD 13-27622876-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.40
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available