A2V (p.Ala2Val) variant of SCN9A (Q15858)
A2V (p.Ala2Val) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs2468155894
- ClinGen CA349096308
- ClinVar RCV002942214
- NCI-TCGA TCGA novel
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- MetaLR 0.85
- MetaSVM 0.88
- CADD 24.80
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)