T66M (p.Thr66Met) variant of CASQ2 (Calsequestrin-2)
T66M (p.Thr66Met) 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 0.17 / 1. The record also includes population frequency data and structural context.
T66M (p.Thr66Met) variant details
- p.Thr66Met
- rs1557809802
- NCI-TCGA Cosmic COSV5477
- TOPMed rs1557809802
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.05
- CADD 14.30
- PolyPhen-2 0.33
- SIFT 0.18
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available