T27S (p.Thr27Ser) variant of RYR2 (Ryanodine receptor 2)
T27S (p.Thr27Ser) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T27S (p.Thr27Ser) variant details
- p.Thr27Ser
- rs1399536009
- ClinGen CA345654325
- ClinVar RCV002418665
- ClinVar RCV002484075
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.56
- MetaLR 0.82
- MetaSVM 0.60
- CADD 21.50
- PolyPhen-2 0.61
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)