Q4201H (p.Gln4201His) variant of RYR2 (Ryanodine receptor 2)
Q4201H (p.Gln4201His) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
Q4201H (p.Gln4201His) variant details
- p.Gln4201His
- rs2149354441
- ClinGen CA345413730
- NCI-TCGA Cosmic COSV6368
- cosmic curated COSV63688
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.94
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic (in CPVT1)
- UniProt: Pathogenic (in CPVT1)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)