E1702V (p.Glu1702Val) variant of SCN4A (Nav1.4)
E1702V (p.Glu1702Val) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E1702V (p.Glu1702Val) variant details
- p.Glu1702Val
- rs1555600604
- ClinGen CA400614061
- ClinVar RCV000810158
- Ensembl rs1555600604
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.95
- MetaLR 0.93
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)