G61S (p.Gly61Ser) variant of SCN4A (Nav1.4)
G61S (p.Gly61Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Potassium-ag. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G61S (p.Gly61Ser) variant details
- p.Gly61Ser
- rs759771825
- ClinGen CA8710262
- ClinVar RCV001883166
- ClinVar RCV005005328
- Uncertain significance
- Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Potassium-ag
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.67
- CADD 22.60
- PolyPhen-2 0.38
- SIFT 0.23
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis; Congenital myasthenic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)