T47I (p.Thr47Ile) variant of MYL3 (Myosin light chain 3)
T47I (p.Thr47Ile) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- rs778515428
- ClinGen CA042630
- ClinVar RCV001524668
- ClinVar RCV002388573
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.48
- CADD 26.40
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)