R1142Q (p.Arg1142Gln) variant of SCN4A (Nav1.4)
R1142Q (p.Arg1142Gln) 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 not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1142Q (p.Arg1142Gln) variant details
- p.Arg1142Gln
- rs780703403
- ClinGen CA8709288
- ClinVar RCV000557400
- ClinVar RCV003227493
- Pathogenic/Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.07
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in CMYO22A)
- UniProt: Pathogenic (in CMYO22A)
- Most common in the South Asian population (allele frequency 0.00026)
- Structural context available
- Cited in: Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel… (PMID 28262468)
- Cited in: Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (PMID 26700687)