R23C (p.Arg23Cys) variant of POLR1D (P0DPB6)
R23C (p.Arg23Cys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- rs770558990
- gnomAD 13-27648413-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available