P49T (p.Pro49Thr) variant of SCN9A (Q15858)
P49T (p.Pro49Thr) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar 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 structural context.
P49T (p.Pro49Thr) variant details
- p.Pro49Thr
- ExAC rs778143440
- gnomAD rs778143440
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- UniProt: Uncertain significance
- Structural context available