V33A (p.Val33Ala) variant of SCN4A (Nav1.4)
V33A (p.Val33Ala) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar 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 0.14 / 1. The record also includes population frequency data and structural context.
V33A (p.Val33Ala) variant details
- p.Val33Ala
- TOPMed rs921149749
- gnomAD rs921149749
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.18
- CADD 0.11
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available