M1360V (p.Met1360Val) variant of SCN4A (Nav1.4)
M1360V (p.Met1360Val) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M1360V (p.Met1360Val) variant details
- p.Met1360Val
- rs80338959
- ClinGen CA341671
- ClinVar RCV000020272
- ClinVar RCV004998104
- Pathogenic/Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.95
- CADD 23.90
- PolyPhen-2 0.79
- SIFT 0.11
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)