T27S (p.Thr27Ser) variant of CALM3 (Calmodulin-3)
T27S (p.Thr27Ser) in CALM3 (Calmodulin-3) 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 0.49 / 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
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.30
- MetaLR 0.49
- MetaSVM 0.04
- SIFT 0.05
- MutPred 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
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