A55P (p.Ala55Pro) variant of SCN9A (Q15858)
A55P (p.Ala55Pro) 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 record also includes published literature and structural context.
A55P (p.Ala55Pro) variant details
- p.Ala55Pro
- rs2468154451
- ClinGen CA349095967
- ClinVar RCV003032668
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- 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)