R55Q (p.Arg55Gln) variant of MYLK (Q15746)
R55Q (p.Arg55Gln) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- rs768984022
- ClinGen CA067644
- ClinVar RCV002313416
- ClinVar RCV002531834
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.13
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)