D97Y (p.Asp97Tyr) variant of MECP2 (Methyl-CpG-binding protein 2)
D97Y (p.Asp97Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D97Y (p.Asp97Tyr) variant details
- p.Asp97Tyr
- rs61754448
- ClinGen CA270316
- ClinVar RCV000133048
- UniProt VAR 018182
- Likely pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: MeCP2 mutations in children with and without the phenotype of Rett syndrome. (PMID 11402105)
- Cited in: MECP2 Disorders. (PMID 20301670)