V35L (p.Val35Leu) variant of CASQ2 (Calsequestrin-2)
V35L (p.Val35Leu) 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 0.24 / 1. The record also includes population frequency data and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- ExAC rs780579529
- TOPMed rs780579529
- gnomAD rs780579529
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -0.94
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available