E98D (p.Glu98Asp) variant of MYH11 (Myosin-11)
E98D (p.Glu98Asp) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E98D (p.Glu98Asp) variant details
- p.Glu98Asp
- rs864309563
- ClinGen CA277883
- ClinVar RCV000202901
- ClinVar RCV001189910
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.92
- MetaLR 0.81
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)