E11D (p.Glu11Asp) variant of MYH11 (Myosin-11)
E11D (p.Glu11Asp) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- rs148562366
- ClinGen CA7923131
- cosmic curated COSV10589
- ClinVar RCV000549599
- Likely benign
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aortic an
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.23
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Likely benign (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)