R23P (p.Arg23Pro) variant of POLR1D (P0DPB6)
R23P (p.Arg23Pro) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R23P (p.Arg23Pro) variant details
- p.Arg23Pro
- rs1215916836
- gnomAD 13-27648414-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 29.00
- Population evidence available
- Structural context available
- Literature evidence available