L124F (p.Leu124Phe) variant of MECP2 (Methyl-CpG-binding protein 2)
L124F (p.Leu124Phe) 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 0.87 / 1. The record also includes published literature and structural context.
L124F (p.Leu124Phe) variant details
- p.Leu124Phe
- rs61755763
- ClinGen CA270369
- ClinVar RCV000133082
- UniProt VAR 010277
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.65
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. (PMID 10991688)
- Cited in: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (PMID 10508514)