P101S (p.Pro101Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
P101S (p.Pro101Ser) 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 0.91 / 1. The record also includes published literature and structural context.
P101S (p.Pro101Ser) variant details
- p.Pro101Ser
- rs61754452
- ClinGen CA270328
- ClinVar RCV000133056
- UniProt VAR 023554
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. (PMID 11269512)
- Cited in: MECP2 Disorders. (PMID 20301670)