R23T (p.Arg23Thr) variant of POLR1D (P0DPB6)
R23T (p.Arg23Thr) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R23T (p.Arg23Thr) variant details
- p.Arg23Thr
- gnomAD 13-27648426-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available