E1266D (p.Glu1266Asp) variant of SCN4A (Nav1.4)
E1266D (p.Glu1266Asp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital myopathy 22B, severe fetal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E1266D (p.Glu1266Asp) variant details
- p.Glu1266Asp
- rs2509289236
- ClinGen CA400617467
- ClinVar RCV003315480
- Likely pathogenic
- Congenital myopathy 22B, severe fetal
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.72
- MetaLR 0.93
- MetaSVM 0.95
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myopathy 22B, severe fetal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available