D151Y (p.Asp151Tyr) variant of MECP2 (Methyl-CpG-binding protein 2)
D151Y (p.Asp151Tyr) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rett syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
D151Y (p.Asp151Tyr) variant details
- p.Asp151Tyr
- rs1557137042
- ClinGen CA415174739
- ClinVar RCV000512893
- ClinVar RCV000991004
- Likely pathogenic
- Rett syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Rett syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)