A81T (p.Ala81Thr) variant of CASQ2 (Calsequestrin-2)
A81T (p.Ala81Thr) in CASQ2 (Calsequestrin-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 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A81T (p.Ala81Thr) variant details
- p.Ala81Thr
- rs1239940555
- NCI-TCGA Cosmic COSV5477
- gnomAD rs1239940555
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.73
- MetaLR 0.61
- MetaSVM 0.00
- CADD 27.80
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available