M1370V (p.Met1370Val) variant of SCN4A (Nav1.4)
M1370V (p.Met1370Val) 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.
M1370V (p.Met1370Val) variant details
- p.Met1370Val
- rs80338960
- ClinGen CA341673
- ClinVar RCV000020273
- ClinVar RCV000992897
- Pathogenic/Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.95
- CADD 25.30
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)