L35V (p.Leu35Val) variant of RYR2 (Ryanodine receptor 2)
L35V (p.Leu35Val) 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 0.51 / 1. The record also includes published literature and structural context.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- rs1689577425
- ClinGen CA345654379
- ClinVar RCV002393232
- ClinVar RCV002552597
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.11
- MetaLR 0.65
- MetaSVM 0.06
- PolyPhen-2 0.05
- SIFT 1.00
- MutPred 0.50
- 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)