D1959A (p.Asp1959Ala) variant of SCN9A (Nav1.7)
D1959A (p.Asp1959Ala) 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 0.76 / 1. The record also includes published literature and structural context.
D1959A (p.Asp1959Ala) variant details
- p.Asp1959Ala
- rs1060502047
- ClinGen CA16610170
- ClinVar RCV000467475
- Ensembl rs1060502047
- Likely pathogenic
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.43
- MetaLR 0.87
- MetaSVM 0.92
- SIFT 0.00
- MutPred 0.35
- ClinVar: Likely pathogenic (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)