G54E (p.Gly54Glu) variant of MYLK (Q15746)
G54E (p.Gly54Glu) 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; Familial thoracic aortic aneurysm and aortic dissection; Megacysti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- rs767453947
- ClinGen CA067594
- ClinVar RCV001577928
- ClinVar RCV002313450
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Megacysti
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.32
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)