M1592I (p.Met1592Ile) variant of SCN4A (Nav1.4)
M1592I (p.Met1592Ile) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Potassium-aggravated myotonia; Hyperkalemic periodic paralysis; Paramyotonia con. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
M1592I (p.Met1592Ile) variant details
- p.Met1592Ile
- rs886041805
- ClinGen CA10603317
- ClinVar RCV000319375
- ClinVar RCV005090333
- Pathogenic/Likely pathogenic
- Potassium-aggravated myotonia; Hyperkalemic periodic paralysis; Paramyotonia con
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Potassium-aggravated myotonia; Hyperkalemic periodic paralysis;)
- EBI: Pathogenic (in HYPP and NKPP)
- UniProt: Pathogenic (in HYPP and NKPP)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)