R675G (p.Arg675Gly) variant of SCN4A (Nav1.4)
R675G (p.Arg675Gly) 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 not provided; Hyperkalemic periodic paralysis; Abnormality of the musculature. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R675G (p.Arg675Gly) variant details
- p.Arg675Gly
- rs121908556
- ClinGen CA117850
- ClinVar RCV000006281
- ClinVar RCV000206909
- Pathogenic/Likely pathogenic
- not provided; Hyperkalemic periodic paralysis; Abnormality of the musculature
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperkalemic periodic paralysis; Abnormality of th)
- EBI: Pathogenic (in NKPP)
- UniProt: Pathogenic (in NKPP)
- Structural context available
- Cited in: New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. (PMID 15596759)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)