M1476V (p.Met1476Val) variant of SCN4A (Nav1.4)
M1476V (p.Met1476Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
M1476V (p.Met1476Val) variant details
- p.Met1476Val
- rs1567816461
- ClinGen CA400616050
- ClinVar RCV000713114
- ClinVar RCV001048956
- Pathogenic/Likely pathogenic
- Hyperkalemic periodic paralysis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.89
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 0.35
- SIFT 0.00
- EVE 0.33
- ClinVar: Pathogenic/Likely pathogenic (Hyperkalemic periodic paralysis; not provided)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)