G64A (p.Gly64Ala) variant of SCN9A (Q15858)
G64A (p.Gly64Ala) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G64A (p.Gly64Ala) variant details
- p.Gly64Ala
- rs558889724
- ClinGen CA349095909
- ClinVar RCV001059784
- 1000Genomes rs558889724
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.43
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)