H97P (p.His97Pro) variant of MYLK (Q15746)
H97P (p.His97Pro) in MYLK (Q15746) 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 record also includes published literature and structural context.
H97P (p.His97Pro) variant details
- p.His97Pro
- rs756800370
- ClinGen CA354244381
- ClinVar RCV002313433
- ExAC rs756800370
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely benign
- UniProt: Likely benign
- 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)