E46Q (p.Glu46Gln) variant of MYH11 (Myosin-11)
E46Q (p.Glu46Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- rs866047937
- ClinGen CA395198601
- NCI-TCGA Cosmic COSV5556
- cosmic curated COSV55564
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 0.81
- SIFT 0.10
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)