D4Y (p.Asp4Tyr) variant of POLR1D (P0DPB6)
D4Y (p.Asp4Tyr) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D4Y (p.Asp4Tyr) variant details
- p.Asp4Tyr
- gnomAD 13-27621993-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.42
- CADD 32.00
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available