Q19* (p.Gln19Ter) variant of MECP2 (Methyl-CpG-binding protein 2)
Q19* (p.Gln19Ter) 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 0.54 / 1. The record also includes experimental measurements, published literature, and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- rs61754425
- ClinGen CA270467
- ClinVar RCV000133160
- ClinVar RCV002316919
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.09
- MetaLR 0.82
- MetaSVM 0.62
- PolyPhen-2 0.05
- SIFT 0.01
- EVE 0.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.118
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)