L796V (p.Leu796Val) variant of SCN4A (Nav1.4)
L796V (p.Leu796Val) 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 SCN4A-related disorder; not provided; Skeletal muscle channelopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L796V (p.Leu796Val) variant details
- p.Leu796Val
- rs750053946
- ClinGen CA16607432
- ClinVar RCV000435175
- ClinVar RCV000821671
- Pathogenic/Likely pathogenic
- SCN4A-related disorder; not provided; Skeletal muscle channelopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (SCN4A-related disorder; not provided; Skeletal muscle channelopa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)