M1592V (p.Met1592Val) variant of SCN4A (Nav1.4)
M1592V (p.Met1592Val) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
M1592V (p.Met1592Val) variant details
- p.Met1592Val
- rs80338962
- ClinGen CA117834
- ClinVar RCV000006256
- ClinVar RCV000006257
- Pathogenic
- Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.96
- MetaLR 0.95
- MetaSVM 1.15
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Potassium-aggravated myotonia; Hypokalemic periodic paralysis, t)
- EBI: Pathogenic (in HYPP and NKPP)
- UniProt: Pathogenic (in HYPP and NKPP)
- Structural context available
- Cited in: A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. (PMID 1659668)
- Cited in: Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. (PMID 18046642)