K5T (p.Lys5Thr) variant of MYL3 (Myosin light chain 3)
K5T (p.Lys5Thr) 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. The record also includes structural context.
K5T (p.Lys5Thr) variant details
- p.Lys5Thr
- rs2544972081
- ClinGen CA352499944
- ClinVar RCV002304562
- ClinVar RCV004047653
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available