P322L (p.Pro322Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
P322L (p.Pro322Leu) 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 0.49 / 1. The record also includes published literature and structural context.
P322L (p.Pro322Leu) variant details
- p.Pro322Leu
- rs61751450
- ClinGen CA270591
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57654
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.48
- MetaLR 0.54
- MetaSVM 0.15
- PolyPhen-2 0.43
- SIFT 0.01
- EVE 0.21
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: MeCP2 mutations in children with and without the phenotype of Rett syndrome. (PMID 11402105)
- Cited in: MECP2 Disorders. (PMID 20301670)