A1156T (p.Ala1156Thr) variant of SCN4A (Nav1.4)
A1156T (p.Ala1156Thr) 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 disorder; Inborn genetic diseases; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A1156T (p.Ala1156Thr) variant details
- p.Ala1156Thr
- rs80338958
- ClinGen CA117837
- ClinVar RCV000006260
- ClinVar RCV000020271
- Pathogenic/Likely pathogenic
- SCN4A-related disorder; Inborn genetic diseases; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.08
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SCN4A-related disorder; Inborn genetic diseases; Hyperkalemic pe)
- EBI: Pathogenic (in PMC, MYOSCN4A and HYPP)
- UniProt: Pathogenic (in PMC, MYOSCN4A and HYPP)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available
- Cited in: Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. (PMID 1338909)
- Cited in: Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. (PMID 20076800)