V4771F (p.Val4771Phe) variant of RYR2 (Ryanodine receptor 2)
V4771F (p.Val4771Phe) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
V4771F (p.Val4771Phe) variant details
- p.Val4771Phe
- rs794728804
- ClinGen CA345424024
- ClinVar RCV003043629
- ClinVar RCV004983280
- Likely pathogenic
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.16
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.13
- EVE 0.64
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Likely pathogenic (in CPVT1)
- UniProt: Likely pathogenic (in CPVT1)
- 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)