G77S (p.Gly77Ser) variant of MYLK (Q15746)
G77S (p.Gly77Ser) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided; Connectiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G77S (p.Gly77Ser) variant details
- p.Gly77Ser
- rs139000120
- ClinGen CA068687
- ClinVar RCV000680577
- ClinVar RCV000769345
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Connectiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.13
- CADD 22.40
- PolyPhen-2 0.93
- SIFT 0.48
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- 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)