R56H (p.Arg56His) variant of POLR1D (P0DPB6)
R56H (p.Arg56His) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R56H (p.Arg56His) variant details
- p.Arg56His
- TOPMed rs1181354265
- gnomAD rs1181354265
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available