P225T (p.Pro225Thr) variant of MECP2 (Methyl-CpG-binding protein 2)
P225T (p.Pro225Thr) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
P225T (p.Pro225Thr) variant details
- p.Pro225Thr
- rs267608513
- ClinGen CA232991
- ClinVar RCV000133192
- ClinVar RCV000193090
- Pathogenic/Likely pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.94
- MetaLR 0.79
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: 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)