S113Y (p.Ser113Tyr) variant of MECP2 (Methyl-CpG-binding protein 2)
S113Y (p.Ser113Tyr) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
S113Y (p.Ser113Tyr) variant details
- p.Ser113Tyr
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.98
- MetaSVM 1.08
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available