V46L (p.Val46Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
V46L (p.Val46Leu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The record also includes population frequency data, experimental measurements, and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- ExAC rs587783134
- TOPMed rs587783134
- gnomAD rs587783134
- Likely benign
- Inborn genetic diseases
- Missense
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.253