F42Y (p.Phe42Tyr) variant of POLR1D (P0DPB6)
F42Y (p.Phe42Tyr) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
F42Y (p.Phe42Tyr) variant details
- p.Phe42Tyr
- gnomAD 13-27622973-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.68
- CADD 24.90
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available