L84V (p.Leu84Val) variant of CASQ2 (Calsequestrin-2)
L84V (p.Leu84Val) 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 1; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L84V (p.Leu84Val) variant details
- p.Leu84Val
- TOPMed rs1274422352
- gnomAD rs1274422352
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.54
- AlphaMissense 0.56
- MetaLR 0.65
- MetaSVM 0.40
- CADD 22.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available