F42V (p.Phe42Val) variant of POLR1D (P0DPB6)
F42V (p.Phe42Val) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F42V (p.Phe42Val) variant details
- p.Phe42Val
- gnomAD 13-27622972-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.78
- CADD 25.20
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available