R3I (p.Arg3Ile) variant of CASQ2 (Calsequestrin-2)
R3I (p.Arg3Ile) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R3I (p.Arg3Ile) variant details
- p.Arg3Ile
- rs780771730
- NCI-TCGA Cosmic COSV5476
- ExAC rs780771730
- TOPMed rs780771730
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.16
- MetaLR 0.10
- MetaSVM -1.04
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available