R31L (p.Arg31Leu) variant of SCN4A (Nav1.4)
R31L (p.Arg31Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Congenital myasthenic syndrome 16. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- rs112142736
- ClinGen CA8710289
- ClinVar RCV000251549
- ClinVar RCV000263314
- Benign
- not specified; not provided; Congenital myasthenic syndrome 16
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.56
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.02
- ClinVar: Benign (not specified; not provided; 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)