D17Y (p.Asp17Tyr) variant of RYR2 (Ryanodine receptor 2)
D17Y (p.Asp17Tyr) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D17Y (p.Asp17Tyr) variant details
- p.Asp17Tyr
- rs370488091
- ClinGen CA345654255
- ClinVar RCV000852412
- ESP rs370488091
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.89
- MetaLR 0.87
- MetaSVM 0.84
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.01
- 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)