A391D (p.Ala391Asp) variant of RYR2 (Ryanodine receptor 2)
A391D (p.Ala391Asp) 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; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
A391D (p.Ala391Asp) variant details
- p.Ala391Asp
- rs374306538
- ClinGen CA345377303
- ClinVar RCV002331653
- ClinVar RCV002549075
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.45
- MetaLR 0.76
- MetaSVM 0.67
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.66
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1; Cardiov)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)