K2E (p.Lys2Glu) variant of CASQ2 (Calsequestrin-2)
K2E (p.Lys2Glu) 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 0.25 / 1. The record also includes population frequency data and structural context.
K2E (p.Lys2Glu) variant details
- p.Lys2Glu
- rs1649207484
- ClinGen CA341767470
- ClinVar RCV003358168
- TOPMed rs1649207484
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.16
- MetaLR 0.17
- MetaSVM -0.84
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.11
- 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