S68L (p.Ser68Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
S68L (p.Ser68Leu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, experimental measurements, and structural context.
S68L (p.Ser68Leu) variant details
- p.Ser68Leu
- gnomAD rs267608438
- Pathogenic
- Missense
- MetaLR 0.92
- MetaSVM 1.09
- SIFT 0.05
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.912