D17N (p.Asp17Asn) variant of RYR2 (Ryanodine receptor 2)
D17N (p.Asp17Asn) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- rs370488091
- ClinGen CA086815
- ClinVar RCV001776981
- ClinVar RCV004009048
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.68
- MetaLR 0.93
- MetaSVM 1.01
- CADD 33.00
- PolyPhen-2 0.82
- SIFT 0.08
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia; Catechola)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)