A1491S (p.Ala1491Ser) variant of MYLK (Q15746)
A1491S (p.Ala1491Ser) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic aneurysm, familial thoracic 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
A1491S (p.Ala1491Ser) variant details
- p.Ala1491Ser
- rs1576422965
- ClinGen CA354227280
- ClinVar RCV000855690
- UniProt VAR 083425
- Pathogenic
- Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.28
- MetaLR 0.60
- MetaSVM 0.29
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (Aortic aneurysm, familial thoracic 7)
- EBI: Pathogenic (in AAT7)
- UniProt: Pathogenic (in AAT7)
- Structural context available
- Cited in: Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the… (PMID 29544503)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)