A1143P (p.Ala1143Pro) variant of SCN9A (Nav1.7)
A1143P (p.Ala1143Pro) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A1143P (p.Ala1143Pro) variant details
- p.Ala1143Pro
- rs999645687
- ClinGen CA349071920
- ClinVar RCV003075271
- Likely pathogenic
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- MetaLR 0.34
- MetaSVM -0.75
- CADD 16.40
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Likely pathogenic (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)