L6M (p.Leu6Met) variant of CASQ2 (Calsequestrin-2)
L6M (p.Leu6Met) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- rs2526106734
- ClinGen CA341767446
- ClinVar RCV004299656
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.39
- MetaLR 0.45
- MetaSVM -0.42
- CADD 22.60
- PolyPhen-2 0.83
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available