R1758Q (p.Arg1758Gln) variant of MYH11 (Myosin-11)
R1758Q (p.Arg1758Gln) 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; not provided; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1758Q (p.Arg1758Gln) variant details
- p.Arg1758Gln
- rs142546324
- ClinGen CA272923
- cosmic curated COSV55556
- ClinVar RCV000015192
- Conflicting interpretations
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.86
- CADD 29.90
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Pathogenic (in AAT4)
- UniProt: Pathogenic (in AAT4)
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available
- Cited in: Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular… (PMID 14722581)
- Cited in: Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent… (PMID 16444274)