R1135C (p.Arg1135Cys) variant of SCN4A (Nav1.4)
R1135C (p.Arg1135Cys) 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 Hyperkalemic periodic paralysis; not provided; Congenital myopathy 22A, classic. 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.
R1135C (p.Arg1135Cys) variant details
- p.Arg1135Cys
- rs1287863349
- ClinGen CA400619401
- ClinVar RCV003136482
- ClinVar RCV003505299
- Pathogenic/Likely pathogenic
- Hyperkalemic periodic paralysis; not provided; Congenital myopathy 22A, classic
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hyperkalemic periodic paralysis; not provided; Congenital myopat)
- EBI: Pathogenic (in HOKPP2 and CMYO22A)
- UniProt: Pathogenic (in HOKPP2 and CMYO22A)
- Most common in the South Asian population (allele frequency 0.00024)
- Structural context available
- Cited in: NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery. (PMID 24549961)
- Cited in: Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (PMID 26700687)