E52K (p.Glu52Lys) variant of MYH11 (Myosin-11)
E52K (p.Glu52Lys) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- rs2151381441
- ClinGen CA395198560
- ClinVar RCV002015247
- ClinVar RCV004011092
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.39
- MetaLR 0.59
- MetaSVM 0.06
- PolyPhen-2 0.14
- SIFT 0.09
- MutPred 0.42
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)