S54A (p.Ser54Ala) variant of POLR1D (P0DPB6)
S54A (p.Ser54Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S54A (p.Ser54Ala) variant details
- p.Ser54Ala
- ESP rs142365486
- ExAC rs142365486
- TOPMed rs142365486
- gnomAD rs142365486
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.27
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available