T35I (p.Thr35Ile) variant of CALM3 (Calmodulin-3)
T35I (p.Thr35Ile) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- rs757523692
- ClinGen CA1648594
- ClinVar RCV002272427
- ClinVar RCV002402782
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.89
- MetaLR 0.75
- MetaSVM 0.58
- SIFT 0.00
- MutPred 0.62
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)