R9S (p.Arg9Ser) variant of POLR1D (P0DPB6)
R9S (p.Arg9Ser) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 13-27648379-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available