A46G (p.Ala46Gly) variant of SCN9A (Q15858)
A46G (p.Ala46Gly) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A46G (p.Ala46Gly) variant details
- p.Ala46Gly
- TOPMed rs1698962097
- gnomAD rs1698962097
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- MetaLR 0.37
- MetaSVM -0.50
- CADD 0.65
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available