V69I (p.Val69Ile) variant of MYH11 (Myosin-11)
V69I (p.Val69Ile) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V69I (p.Val69Ile) variant details
- p.Val69Ile
- rs371215641
- ClinGen CA7923108
- ClinVar RCV002421947
- ClinVar RCV005239431
- Conflicting interpretations
- not specified; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.16
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (not specified; Familial thoracic aortic aneurysm and aortic diss)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00013)
- 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)