Q32K (p.Gln32Lys) variant of RYR2 (Ryanodine receptor 2)
Q32K (p.Gln32Lys) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q32K (p.Gln32Lys) variant details
- p.Gln32Lys
- rs1553373926
- ClinGen CA345654356
- ClinVar RCV001089524
- ClinVar RCV002377396
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.50
- MetaLR 0.83
- MetaSVM 0.75
- CADD 21.60
- PolyPhen-2 0.20
- SIFT 0.89
- 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)