S12Y (p.Ser12Tyr) variant of POLR1D (P0DPB6)
S12Y (p.Ser12Tyr) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S12Y (p.Ser12Tyr) variant details
- p.Ser12Tyr
- gnomAD 13-27622883-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.22
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available