E53K (p.Glu53Lys) variant of MYLK (Q15746)
E53K (p.Glu53Lys) 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; Megacystis-microcolon-intestinal hypoperis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- rs376586087
- ClinGen CA067497
- cosmic curated COSV60614
- ClinVar RCV001363882
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.16
- CADD 23.10
- PolyPhen-2 0.36
- SIFT 0.12
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-inte)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)