P164S (p.Pro164Ser) variant of RYR2 (Ryanodine receptor 2)
P164S (p.Pro164Ser) 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 0.97 / 1. The record also includes published literature and structural context.
P164S (p.Pro164Ser) variant details
- p.Pro164Ser
- rs764772142
- ClinGen CA345375479
- ClinVar RCV002651430
- UniProt VAR 044086
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic (in CPVT1)
- UniProt: Pathogenic (in CPVT1)
- Structural context available
- Cited in: Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. (PMID 15466642)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)