G54A (p.Gly54Ala) variant of MYLK (Q15746)
G54A (p.Gly54Ala) in MYLK (Q15746) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G54A (p.Gly54Ala) variant details
- p.Gly54Ala
- ExAC rs767453947
- TOPMed rs767453947
- gnomAD rs767453947
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available