K34N (p.Lys34Asn) variant of RYR2 (Ryanodine receptor 2)
K34N (p.Lys34Asn) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- rs1689577197
- ClinGen CA345654377
- ClinVar RCV003639747
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.40
- MetaLR 0.87
- MetaSVM 0.64
- CADD 2.79
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)