A96G (p.Ala96Gly) variant of CASQ2 (Calsequestrin-2)
A96G (p.Ala96Gly) 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 0.34 / 1. The record also includes population frequency data and structural context.
A96G (p.Ala96Gly) variant details
- p.Ala96Gly
- Ensembl rs1472557102
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available