P152T (p.Pro152Thr) variant of MECP2 (Methyl-CpG-binding protein 2)
P152T (p.Pro152Thr) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
P152T (p.Pro152Thr) variant details
- p.Pro152Thr
- rs179363900
- ClinGen CA415174714
- ClinVar RCV002894195
- ClinVar RCV005636622
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.17
- PolyPhen-2 0.90
- SIFT 0.05
- EVE 0.67
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely pathogenic (in RTT)
- UniProt: Likely pathogenic (in RTT)
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)