R15P (p.Arg15Pro) variant of RYR2 (Ryanodine receptor 2)
R15P (p.Arg15Pro) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- rs865784613
- ClinGen CA345654226
- ClinVar RCV002527816
- Ensembl rs865784613
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.81
- MetaLR 0.92
- MetaSVM 0.86
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)