S68* (p.Ser68Ter) variant of MECP2 (Methyl-CpG-binding protein 2)
S68* (p.Ser68Ter) in MECP2 (Methyl-CpG-binding protein 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes experimental measurements, published literature, and structural context.
S68* (p.Ser68Ter) variant details
- p.Ser68Ter
- rs267608438
- ClinGen CA270298
- ClinVar RCV000133031
- ClinVar RCV001814066
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.08
- MetaLR 0.81
- MetaSVM 0.01
- PolyPhen-2 0.00
- SIFT 0.03
- EVE 0.14
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.912
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)