K9E (p.Lys9Glu) variant of MYL3 (Myosin light chain 3)
K9E (p.Lys9Glu) 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 Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- rs2544972053
- ClinGen CA352499895
- ClinVar RCV002426219
- ClinVar RCV006629466
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.48
- CADD 26.80
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available