E21K (p.Glu21Lys) variant of CASQ2 (Calsequestrin-2)
E21K (p.Glu21Lys) 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 0.38 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs1397786003
- ClinGen CA341767346
- ClinVar RCV003368082
- TOPMed rs1397786003
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.24
- MetaLR 0.13
- MetaSVM -0.93
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available