F13C (p.Phe13Cys) variant of RYR2 (Ryanodine receptor 2)
F13C (p.Phe13Cys) 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 0.80 / 1. The record also includes published literature and structural context.
F13C (p.Phe13Cys) variant details
- p.Phe13Cys
- rs878854155
- ClinGen CA10581771
- ClinVar RCV002518316
- Ensembl rs878854155
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.75
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)