M90V (p.Met90Val) variant of MYH11 (Myosin-11)
M90V (p.Met90Val) 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; Isolated thoracic aorti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
M90V (p.Met90Val) variant details
- p.Met90Val
- rs1187770545
- ClinGen CA395198302
- ClinVar RCV001374833
- ClinVar RCV004807488
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Isolated thoracic aorti
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.91
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Isolate)
- 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)