E52G (p.Glu52Gly) variant of MYH11 (Myosin-11)
E52G (p.Glu52Gly) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E52G (p.Glu52Gly) variant details
- p.Glu52Gly
- rs1567211756
- ClinGen CA395198557
- ClinVar RCV000772812
- ClinVar RCV000795493
- Uncertain significance
- Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.65
- CADD 25.80
- PolyPhen-2 0.80
- SIFT 0.13
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)