A103T (p.Ala103Thr) variant of CALM1 (Calmodulin-1)
A103T (p.Ala103Thr) in CALM1 (Calmodulin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.78
- MetaLR 0.53
- MetaSVM 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available