A54V (p.Ala54Val) variant of MECP2 (Methyl-CpG-binding protein 2)
A54V (p.Ala54Val) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions, experimental measurements, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- TOPMed rs2065988229
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- MetaLR 0.83
- MetaSVM 0.69
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.343