P217L (p.Pro217Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
P217L (p.Pro217Leu) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
P217L (p.Pro217Leu) variant details
- p.Pro217Leu
- rs878853312
- ClinGen CA10581615
- cosmic curated COSV57657
- ClinVar RCV000225456
- Likely pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.29
- MetaLR 0.76
- MetaSVM 0.70
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.38
- ClinVar: Likely pathogenic (Rett syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)