D4646E (p.Asp4646Glu) variant of RYR2 (Ryanodine receptor 2)
D4646E (p.Asp4646Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D4646E (p.Asp4646Glu) variant details
- p.Asp4646Glu
- rs1378818859
- ClinGen CA345418616
- cosmic curated COSV63702
- ClinVar RCV003639940
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.81
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Likely pathogenic (in VACRDS)
- UniProt: Likely pathogenic (in VACRDS)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)