A57V (p.Ala57Val) variant of MECP2 (Methyl-CpG-binding protein 2)
A57V (p.Ala57Val) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. The record also includes variant effect predictions, population frequency data, experimental measurements, and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- ExAC rs782432972
- Missense
- MetaLR 0.80
- MetaSVM 0.47
- SIFT 0.25
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.151