R672H (p.Arg672His) variant of SCN4A (Nav1.4)
R672H (p.Arg672His) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita. 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.
R672H (p.Arg672His) variant details
- p.Arg672His
- rs80338788
- ClinGen CA253652
- NCI-TCGA Cosmic COSV1014
- ClinVar RCV000006275
- Pathogenic
- Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.89
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Pathogenic (Potassium-aggravated myotonia; Hypokalemic periodic paralysis, t)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)