G1306A (p.Gly1306Ala) variant of SCN4A (Nav1.4)
G1306A (p.Gly1306Ala) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SCN4A-related channelopathy; Skeletal muscle channelopathy; Inborn genetic disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G1306A (p.Gly1306Ala) variant details
- p.Gly1306Ala
- rs80338792
- ClinGen CA117845
- ClinVar RCV000153907
- ClinVar RCV000525753
- Pathogenic/Likely pathogenic
- SCN4A-related channelopathy; Skeletal muscle channelopathy; Inborn genetic disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.87
- AlphaMissense 0.32
- MetaLR 0.91
- MetaSVM 1.07
- CADD 23.60
- PolyPhen-2 0.54
- ClinVar: Pathogenic/Likely pathogenic (SCN4A-related channelopathy; Skeletal muscle channelopathy; Inbo)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. (PMID 18166706)
- Cited in: Myotonia fluctuans. A third type of muscle sodium channel disease. (PMID 7980103)