G87E (p.Gly87Glu) variant of MYLK (Q15746)
G87E (p.Gly87Glu) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Aortic aneurysm, familial thoracic 7; not provided; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G87E (p.Gly87Glu) variant details
- p.Gly87Glu
- rs368325180
- ClinGen CA069054
- ClinVar RCV000757535
- ClinVar RCV001078665
- Benign/Likely benign
- Aortic aneurysm, familial thoracic 7; not provided; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.24
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (Aortic aneurysm, familial thoracic 7; not provided; Familial tho)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.015)
- 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)