A73V (p.Ala73Val) variant of MECP2 (Methyl-CpG-binding protein 2)
A73V (p.Ala73Val) 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.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57651
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.86
- MetaSVM 0.89
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available