D100G (p.Asp100Gly) variant of MYLK (Q15746)
D100G (p.Asp100Gly) in MYLK (Q15746) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 7. The record also includes structural context.
D100G (p.Asp100Gly) variant details
- p.Asp100Gly
- TOPMed rs2063224219
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- UniProt: Uncertain significance
- Structural context available