R672G (p.Arg672Gly) variant of SCN4A (Nav1.4)
R672G (p.Arg672Gly) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R672G (p.Arg672Gly) variant details
- p.Arg672Gly
- rs80338785
- ClinGen CA253653
- ClinVar RCV000006276
- ClinVar RCV000020262
- Pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Structural context available
- Cited in: Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and… (PMID 10944223)
- Cited in: Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II. (PMID 11912116)