G77S (p.Gly77Ser) variant of SCN4A (Nav1.4)
G77S (p.Gly77Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperkalemic periodic paralysis; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G77S (p.Gly77Ser) variant details
- p.Gly77Ser
- rs369547459
- ClinGen CA8710250
- ClinVar RCV001047326
- ClinVar RCV002552619
- Uncertain significance
- not provided; Hyperkalemic periodic paralysis; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.32
- CADD 16.30
- PolyPhen-2 0.16
- SIFT 0.46
- ClinVar: Uncertain significance (not provided; Hyperkalemic periodic paralysis; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00035)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)