V95I (p.Val95Ile) variant of SCN4A (Nav1.4)
V95I (p.Val95Ile) 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; Congenital myopathy 22B, severe fetal; Paramyot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V95I (p.Val95Ile) variant details
- p.Val95Ile
- rs543813038
- NCI-TCGA Cosmic COSV7112
- 1000Genomes rs543813038
- ExAC rs543813038
- Uncertain significance
- Hyperkalemic periodic paralysis; Congenital myopathy 22B, severe fetal; Paramyot
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.56
- CADD 23.10
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis; Congenital myopathy 22B, severe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available