G7E (p.Gly7Glu) variant of MYO7A (Unconventional myosin-VIIa)
G7E (p.Gly7Glu) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- ExAC rs781989117
- gnomAD rs781989117
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available