P60L (p.Pro60Leu) variant of MYLK (Q15746)
P60L (p.Pro60Leu) 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; Aortic aneurysm, famili. 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.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- rs1060502532
- ClinGen CA16611126
- ClinVar RCV000457727
- ClinVar RCV002411479
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.36
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-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)