A50V (p.Ala50Val) variant of MECP2 (Methyl-CpG-binding protein 2)
A50V (p.Ala50Val) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- TOPMed rs1480424905
- gnomAD rs1480424905
- Missense
- MetaLR 0.84
- MetaSVM 0.60
- SIFT 0.12
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.593