G77D (p.Gly77Asp) variant of MYLK (Q15746)
G77D (p.Gly77Asp) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G77D (p.Gly77Asp) variant details
- p.Gly77Asp
- rs780448822
- ClinGen CA82953125
- ClinVar RCV003177732
- ClinVar RCV006473873
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.18
- CADD 15.20
- PolyPhen-2 0.25
- SIFT 0.93
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)