P302L (p.Pro302Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
P302L (p.Pro302Leu) 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 0.88 / 1. The record also includes published literature and structural context.
P302L (p.Pro302Leu) variant details
- p.Pro302Leu
- rs61749723
- ClinGen CA270574
- ClinVar RCV000133281
- ClinVar RCV000413239
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.08
- 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: MECP2 Disorders. (PMID 20301670)