R23K (p.Arg23Lys) variant of POLR1D (P0DPB6)
R23K (p.Arg23Lys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R23K (p.Arg23Lys) variant details
- p.Arg23Lys
- gnomAD 13-27622916-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.24
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available