R9G (p.Arg9Gly) variant of POLR1D (P0DPB6)
R9G (p.Arg9Gly) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 13-27622008-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.47
- CADD 34.00
- PolyPhen-2 0.59
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available