K97E (p.Lys97Glu) variant of CASQ2 (Calsequestrin-2)
K97E (p.Lys97Glu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K97E (p.Lys97Glu) variant details
- p.Lys97Glu
- rs750159744
- ClinGen CA1023958
- ClinVar RCV001256930
- ClinVar RCV002436977
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.94
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Catecholaminergic polymo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)