T16S (p.Thr16Ser) variant of POLR1D (P0DPB6)
T16S (p.Thr16Ser) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- TOPMed rs921178811
- gnomAD rs921178811
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.08
- Population evidence available
- Structural context available