Q47R (p.Gln47Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
Q47R (p.Gln47Arg) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- cosmic curated COSV57656
- Missense
- MetaLR 0.78
- MetaSVM 0.58
- SIFT 0.08
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.571