T27I (p.Thr27Ile) variant of CASQ2 (Calsequestrin-2)
T27I (p.Thr27Ile) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- rs773237428
- ClinGen CA1024003
- ClinVar RCV000825714
- ClinVar RCV002415954
- Conflicting interpretations
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.87
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00085)
- 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)