P152R (p.Pro152Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
P152R (p.Pro152Arg) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P152R (p.Pro152Arg) variant details
- p.Pro152Arg
- rs61748404
- ClinGen CA270424
- ClinVar RCV000133116
- ClinVar RCV000254929
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation… (PMID 10767337)
- Cited in: Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. (PMID 10991688)