R9K (p.Arg9Lys) variant of POLR1D (P0DPB6)
R9K (p.Arg9Lys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- Ensembl rs1593274191
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.32
- CADD 33.00
- PolyPhen-2 0.36
- SIFT 0.62
- Population evidence available
- Structural context available