G77C (p.Gly77Cys) variant of MYLK (Q15746)
G77C (p.Gly77Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G77C (p.Gly77Cys) variant details
- p.Gly77Cys
- ESP rs139000120
- ExAC rs139000120
- TOPMed rs139000120
- gnomAD rs139000120
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.22
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available