S78A (p.Ser78Ala) variant of MECP2 (Methyl-CpG-binding protein 2)
S78A (p.Ser78Ala) 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.
S78A (p.Ser78Ala) variant details
- p.Ser78Ala
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.83
- MetaSVM 0.84
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available