R57G (p.Arg57Gly) variant of MYLK (Q15746)
R57G (p.Arg57Gly) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R57G (p.Arg57Gly) variant details
- p.Arg57Gly
- rs776636237
- ClinGen CA82953203
- ClinVar RCV002979821
- ClinVar RCV004065299
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.38
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)