D3Y (p.Asp3Tyr) variant of MYLK (Q15746)
D3Y (p.Asp3Tyr) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Aortic aneurysm, familial thoracic 7; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- rs2064882893
- ClinGen CA354237408
- ClinVar RCV001337529
- ClinVar RCV001587355
- Uncertain significance
- not provided; Aortic aneurysm, familial thoracic 7; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.37
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Aortic aneurysm, familial thoracic 7; Familial tho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)