Q3955K (p.Gln3955Lys) variant of RYR2 (Ryanodine receptor 2)
Q3955K (p.Gln3955Lys) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q3955K (p.Gln3955Lys) variant details
- p.Gln3955Lys
- rs1558393802
- ClinGen CA345409505
- ClinVar RCV002471405
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.78
- AlphaMissense 0.43
- MetaLR 0.90
- MetaSVM 0.94
- CADD 24.10
- PolyPhen-2 0.93
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)