A2S (p.Ala2Ser) variant of SCN9A (Nav1.7)
A2S (p.Ala2Ser) in SCN9A (Nav1.7) 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 0.62 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- ESP rs199841742
- TOPMed rs199841742
- gnomAD rs199841742
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- MetaLR 0.81
- MetaSVM 0.52
- CADD 21.10
- PolyPhen-2 0.05
- SIFT 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available