V13I (p.Val13Ile) variant of SCN9A (Q15858)
V13I (p.Val13Ile) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V13I (p.Val13Ile) variant details
- p.Val13Ile
- rs779738791
- ClinGen CA349096246
- ClinVar RCV001042146
- ClinVar RCV002481893
- Uncertain significance
- Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- MetaLR 0.78
- MetaSVM 0.24
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.41
- ClinVar: Uncertain significance (Primary erythromelalgia; Neuropathy, hereditary sensory and auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)