A55G (p.Ala55Gly) variant of SCN9A (Nav1.7)
A55G (p.Ala55Gly) 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 0.78 / 1. The record also includes published literature and structural context.
A55G (p.Ala55Gly) variant details
- p.Ala55Gly
- rs1222851635
- ClinGen CA349095962
- ClinVar RCV003023215
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.85
- MetaLR 0.94
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.48
- MutPred 0.23
- 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)