D36E (p.Asp36Glu) variant of POLR1D (P0DPB6)
D36E (p.Asp36Glu) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- gnomAD 13-27622956-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.31
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available