S4153R (p.Ser4153Arg) variant of RYR2 (Ryanodine receptor 2)
S4153R (p.Ser4153Arg) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S4153R (p.Ser4153Arg) variant details
- p.Ser4153Arg
- rs1273246817
- ClinVar RCV004595233
- Ensembl rs1273246817
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.83
- MetaLR 0.91
- MetaSVM 0.98
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.19
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)