A104T (p.Ala104Thr) variant of CALM3 (Calmodulin-3)
A104T (p.Ala104Thr) in CALM3 (Calmodulin-3) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A104T (p.Ala104Thr) variant details
- p.Ala104Thr
- rs767096742
- ClinGen CA9529820
- ClinVar RCV003087145
- ExAC rs767096742
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.23
- MetaLR 0.10
- MetaSVM -1.01
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-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)