K2R (p.Lys2Arg) variant of CASQ2 (Calsequestrin-2)
K2R (p.Lys2Arg) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- rs1649207434
- ClinGen CA341767467
- ClinVar RCV001170447
- Ensembl rs1649207434
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.07
- MetaLR 0.17
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.49
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)