Y63N (p.Tyr63Asn) variant of SCN9A (Nav1.7)
Y63N (p.Tyr63Asn) in SCN9A (Nav1.7) 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 0.83 / 1. The record also includes published literature and structural context.
Y63N (p.Tyr63Asn) variant details
- p.Tyr63Asn
- rs1698959487
- ClinGen CA349095919
- ClinVar RCV002613010
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.81
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.66
- MutPred 0.42
- 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)