T27S (p.Thr27Ser) variant of CALM2 (Calmodulin-2)
T27S (p.Thr27Ser) in CALM2 (Calmodulin-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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T27S (p.Thr27Ser) variant details
- p.Thr27Ser
- rs1131691669
- ClinGen CA346720087
- ClinVar RCV000493725
- ClinVar RCV001856970
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.34
- MetaLR 0.54
- MetaSVM 0.09
- CADD 22.70
- SIFT 0.39
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)