S1759P (p.Ser1759Pro) variant of MYLK (Q15746)
S1759P (p.Ser1759Pro) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
S1759P (p.Ser1759Pro) variant details
- p.Ser1759Pro
- rs387906781
- ClinGen CA024862
- ClinVar RCV000023044
- ClinVar RCV000603875
- Pathogenic/Likely pathogenic
- Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.62
- MetaLR 0.39
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.51
- ClinVar: Pathogenic/Likely pathogenic (Aortic aneurysm, familial thoracic 7; Familial thoracic aortic a)
- EBI: Pathogenic (in AAT7)
- UniProt: Pathogenic (in AAT7)
- Structural context available
- Cited in: Mutations in myosin light chain kinase cause familial aortic dissections. (PMID 21055718)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)