R23H (p.Arg23His) variant of POLR1D (P0DPB6)
R23H (p.Arg23His) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R23H (p.Arg23His) variant details
- p.Arg23His
- rs1215916836
- gnomAD 13-27648414-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 29.20
- Population evidence available
- Structural context available
- Literature evidence available