Y120D (p.Tyr120Asp) variant of MECP2 (Methyl-CpG-binding protein 2)
Y120D (p.Tyr120Asp) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
Y120D (p.Tyr120Asp) variant details
- p.Tyr120Asp
- rs267608454
- ClinGen CA270363
- ClinVar RCV000133076
- UniProt VAR 023555
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.30
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. (PMID 11376998)
- Cited in: MECP2 Disorders. (PMID 20301670)