T107A (p.Thr107Ala) variant of SCN10A (Q9Y5Y9)
T107A (p.Thr107Ala) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
T107A (p.Thr107Ala) variant details
- p.Thr107Ala
- ExAC rs757050845
- TOPMed rs757050845
- gnomAD rs757050845
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.59
- MetaLR 0.90
- MetaSVM 0.96
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available