D97E (p.Asp97Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
D97E (p.Asp97Glu) 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 0.90 / 1. The record also includes published literature and structural context.
D97E (p.Asp97Glu) variant details
- p.Asp97Glu
- rs61754449
- ClinGen CA270323
- ClinVar RCV000133051
- UniProt VAR 023552
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.68
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutation screening in Rett syndrome patients. (PMID 10745042)
- Cited in: MECP2 Disorders. (PMID 20301670)