H38R (p.His38Arg) variant of POLR1D (P0DPB6)
H38R (p.His38Arg) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H38R (p.His38Arg) variant details
- p.His38Arg
- gnomAD rs1204708589
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.22
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.36
- Population evidence available
- Structural context available