P101R (p.Pro101Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
P101R (p.Pro101Arg) 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 0.89 / 1. The record also includes published literature and structural context.
P101R (p.Pro101Arg) variant details
- p.Pro101Arg
- rs61754453
- ClinGen CA274626
- ClinVar RCV000133058
- ClinVar RCV000170238
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. (PMID 10991689)
- Cited in: Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. (PMID 11283202)