C24Y (p.Cys24Tyr) variant of RYR2 (Ryanodine receptor 2)
C24Y (p.Cys24Tyr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C24Y (p.Cys24Tyr) variant details
- p.Cys24Tyr
- rs1487597802
- ClinGen CA345654305
- ClinVar RCV001191001
- TOPMed rs1487597802
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)