M203K (p.Met203Lys) variant of SCN4A (Nav1.4)
M203K (p.Met203Lys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M203K (p.Met203Lys) variant details
- p.Met203Lys
- rs933258893
- ClinGen CA292972679
- ClinVar RCV001387955
- ClinVar RCV003227973
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.89
- CADD 26.60
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in CMYO22B)
- UniProt: Pathogenic (in CMYO22B)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (PMID 26700687)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)