A549V (p.Ala549Val) variant of RYR2 (Ryanodine receptor 2)
A549V (p.Ala549Val) 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 Catecholaminergic polymorphic ventricular tachycardia 1; Arrhythmogenic right ve. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
A549V (p.Ala549Val) variant details
- p.Ala549Val
- rs794728817
- ClinGen CA008543
- ClinVar RCV001801232
- Ensembl rs794728817
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1; Arrhythmogenic right ve
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.58
- MetaLR 0.84
- MetaSVM 0.80
- PolyPhen-2 0.28
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1; Arrhyth)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)