Q1633E (p.Gln1633Glu) variant of SCN4A (Nav1.4)
Q1633E (p.Gln1633Glu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
Q1633E (p.Gln1633Glu) variant details
- p.Gln1633Glu
- rs2144773878
- ClinGen CA400614588
- ClinVar RCV001663807
- ClinVar RCV003505180
- Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.73
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: New mutation of the Na channel in the severe form of potassium-aggravated myotonia. (PMID 19347921)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)