I67V (p.Ile67Val) variant of SCN4A (Nav1.4)
I67V (p.Ile67Val) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hyperkalemic periodic paralysis; Hypokalemic periodic p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I67V (p.Ile67Val) variant details
- p.Ile67Val
- rs200834218
- ClinGen CA8710260
- ClinVar RCV000522802
- ClinVar RCV000654647
- Uncertain significance
- Inborn genetic diseases; Hyperkalemic periodic paralysis; Hypokalemic periodic p
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.49
- CADD 21.00
- PolyPhen-2 0.15
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Hyperkalemic periodic paralysis; Hypoka)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)