P25T (p.Pro25Thr) variant of MECP2 (Methyl-CpG-binding protein 2)
P25T (p.Pro25Thr) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data, experimental measurements, and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- TOPMed rs1275570991
- gnomAD rs1275570991
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.323