T30P (p.Thr30Pro) variant of CALM1 (Calmodulin-1)
T30P (p.Thr30Pro) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
T30P (p.Thr30Pro) variant details
- p.Thr30Pro
- rs1057521851
- ClinGen CA16606882
- ClinVar RCV000431318
- Ensembl rs1057521851
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- MetaLR 0.63
- MetaSVM 0.31
- PolyPhen-2 0.26
- MutPred 0.72
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available