Y63C (p.Tyr63Cys) variant of SCN9A (Q15858)
Y63C (p.Tyr63Cys) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y63C (p.Tyr63Cys) variant details
- p.Tyr63Cys
- rs1698959401
- ClinGen CA349095916
- ClinVar RCV001208251
- TOPMed rs1698959401
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)