K51E (p.Lys51Glu) variant of MYH11 (Myosin-11)
K51E (p.Lys51Glu) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Familial thoracic aortic aneurysm and aortic dissectio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K51E (p.Lys51Glu) variant details
- p.Lys51Glu
- rs2043951986
- ClinGen CA395198566
- ClinVar RCV001186178
- ClinVar RCV005405529
- Uncertain significance
- Cardiovascular phenotype; Familial thoracic aortic aneurysm and aortic dissectio
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.65
- CADD 25.80
- PolyPhen-2 0.64
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial thoracic aortic aneurysm and)
- 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: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)