I123L (p.Ile123Leu) variant of CASQ2 (Calsequestrin-2)
I123L (p.Ile123Leu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
I123L (p.Ile123Leu) variant details
- p.Ile123Leu
- ExAC rs754139403
- TOPMed rs754139403
- gnomAD rs754139403
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.54
- MetaLR 0.44
- MetaSVM -0.22
- CADD 24.00
- PolyPhen-2 0.58
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available