R9I (p.Arg9Ile) variant of POLR1D (P0DPB6)
R9I (p.Arg9Ile) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R9I (p.Arg9Ile) variant details
- p.Arg9Ile
- gnomAD 13-27622009-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.41
- CADD 36.00
- PolyPhen-2 0.77
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available