E10* (p.Glu10Ter) variant of MECP2 (Methyl-CpG-binding protein 2)
E10* (p.Glu10Ter) in MECP2 (Methyl-CpG-binding protein 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in RTT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes experimental measurements, published literature, and structural context.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- rs61754421
- ClinGen CA270320
- ClinVar RCV000133050
- Ensembl rs61754421
- Likely pathogenic
- in RTT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.38
- MetaLR 0.93
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.27
- EBI: Likely pathogenic (in RTT)
- UniProt: Likely pathogenic (in RTT)
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.776
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)