Q128P (p.Gln128Pro) variant of MECP2 (Methyl-CpG-binding protein 2)
Q128P (p.Gln128Pro) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
Q128P (p.Gln128Pro) variant details
- p.Gln128Pro
- rs61748383
- ClinGen CA270379
- ClinVar RCV000133087
- ClinVar RCV002362775
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.22
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Severe neonatal-onset encephalopathy wi)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. (PMID 12966523)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)