E81Q (p.Glu81Gln) variant of SCN4A (Nav1.4)
E81Q (p.Glu81Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; not specified; Congenital myasthenic syndrome 16. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E81Q (p.Glu81Gln) variant details
- p.Glu81Gln
- rs111926172
- ClinGen CA8710244
- ClinVar RCV000253100
- ClinVar RCV000295819
- Benign
- not provided; not specified; Congenital myasthenic syndrome 16
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.85
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Benign (not provided; not specified; Congenital myasthenic syndrome 16)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.19)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)