H45R (p.His45Arg) variant of POLR1D (P0DPB6)
H45R (p.His45Arg) 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 and structural context.
H45R (p.His45Arg) variant details
- p.His45Arg
- gnomAD rs1484150438
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.59
- CADD 22.80
- PolyPhen-2 0.34
- SIFT 0.31
- Population evidence available
- Structural context available