A79V (p.Ala79Val) variant of MECP2 (Methyl-CpG-binding protein 2)
A79V (p.Ala79Val) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. The record also includes variant effect predictions, population frequency data, and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- ExAC rs782136314
- TOPMed rs782136314
- gnomAD rs782136314
- Missense
- MetaLR 0.78
- MetaSVM 0.30
- SIFT 0.07
- Population evidence available
- Structural context available