R127G (p.Arg127Gly) variant of CALM2 (Calmodulin-2)
R127G (p.Arg127Gly) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R127G (p.Arg127Gly) variant details
- p.Arg127Gly
- rs775065505
- ClinGen CA1648541
- ClinVar RCV002234997
- ExAC rs775065505
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.83
- MetaLR 0.49
- MetaSVM 0.03
- CADD 24.70
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)