G64E (p.Gly64Glu) variant of SCN9A (Q15858)
G64E (p.Gly64Glu) 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 0.76 / 1. The record also includes published literature and structural context.
G64E (p.Gly64Glu) variant details
- p.Gly64Glu
- rs558889724
- ClinGen CA349095908
- ClinVar RCV003794793
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.43
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.02
- EVE 0.49
- MutPred 0.43
- 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)