D23E (p.Asp23Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
D23E (p.Asp23Glu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- rs781974856
- ClinGen CA10558659
- ClinVar RCV003314837
- ClinVar RCV003523156
- Likely benign
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.13
- MetaLR 0.89
- MetaSVM 0.64
- PolyPhen-2 0.98
- SIFT 0.19
- EVE 0.15
- ClinVar: Likely benign (Rett syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.168
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)