N2250I (p.Asn2250Ile) variant of RYR2 (Ryanodine receptor 2)
N2250I (p.Asn2250Ile) 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 0.92 / 1. The record also includes published literature and structural context.
N2250I (p.Asn2250Ile) variant details
- p.Asn2250Ile
- rs2148707460
- ClinGen CA345394728
- ClinVar RCV002074452
- Ensembl rs2148707460
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- 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)