E28A (p.Glu28Ala) variant of POLR1D (P0DPB6)
E28A (p.Glu28Ala) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- gnomAD 13-27622931-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.28
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available