I51T (p.Ile51Thr) variant of MYL3 (Myosin light chain 3)
I51T (p.Ile51Thr) 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 not specified; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I51T (p.Ile51Thr) variant details
- p.Ile51Thr
- rs749017586
- ClinGen CA042658
- ClinVar RCV000490125
- ClinVar RCV000853435
- Uncertain significance
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.44
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.22
- ClinVar: Uncertain significance (not specified; not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)