T30P (p.Thr30Pro) variant of CALM2 (Calmodulin-2)
T30P (p.Thr30Pro) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- MetaLR 0.63
- MetaSVM 0.31
- PolyPhen-2 0.26
- MutPred 0.72
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available