D89E (p.Asp89Glu) variant of MYH11 (Myosin-11)
D89E (p.Asp89Glu) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D89E (p.Asp89Glu) variant details
- p.Asp89Glu
- rs775840903
- ClinGen CA7923101
- ClinVar RCV001805509
- ClinVar RCV002541435
- Uncertain significance
- Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.84
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4; Familial thoracic aortic a)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)