D43N (p.Asp43Asn) variant of SCN9A (Q15858)
D43N (p.Asp43Asn) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.58 / 1. The record also includes published literature and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- rs866960803
- ClinGen CA59810405
- ClinVar RCV003804985
- Ensembl rs866960803
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.07
- MetaLR 0.83
- MetaSVM 0.59
- SIFT 0.06
- EVE 0.22
- MutPred 0.33
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)