D57E (p.Asp57Glu) variant of SCN4A (Nav1.4)
D57E (p.Asp57Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D57E (p.Asp57Glu) variant details
- p.Asp57Glu
- rs1415923721
- NCI-TCGA Cosmic COSV1014
- gnomAD rs1415923721
- Uncertain significance
- Inborn genetic diseases; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.48
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Hyperkalemic periodic paralysis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available