L100R (p.Leu100Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
L100R (p.Leu100Arg) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
L100R (p.Leu100Arg) variant details
- p.Leu100Arg
- rs61754451
- ClinGen CA270326
- ClinVar RCV000133055
- UniProt VAR 023553
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. (PMID 15057977)
- Cited in: MECP2 Disorders. (PMID 20301670)