R9R (p.Arg9Arg) variant of POLR1D (P0DPB6)
R9R (p.Arg9Arg) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R9R (p.Arg9Arg) variant details
- p.Arg9Arg
- rs200478683
- gnomAD 13-27648379-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available