S12P (p.Ser12Pro) variant of POLR1D (P0DPB6)
S12P (p.Ser12Pro) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- TOPMed rs1013753456
- gnomAD rs1013753456
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.26
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available