A103T (p.Ala103Thr) variant of CALM2 (Calmodulin-2)
A103T (p.Ala103Thr) 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 0.52 / 1. The record also includes population frequency data and structural context.
A103T (p.Ala103Thr) variant details
- p.Ala103Thr
- rs147880865
- ClinGen CA9529818
- ClinVar RCV001757345
- ESP rs147880865
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.78
- MetaLR 0.53
- MetaSVM 0.13
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available