R1239H (p.Arg1239His) variant of CACNA1S (Q13698)
R1239H (p.Arg1239His) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R1239H (p.Arg1239His) variant details
- p.Arg1239His
- rs28930068
- ClinGen CA004054
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Pathogenic
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Structural context available
- Cited in: Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. (PMID 17418573)
- Cited in: The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. (PMID 18162704)