L26F (p.Leu26Phe) variant of MECP2 (Methyl-CpG-binding protein 2)
L26F (p.Leu26Phe) 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 Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes experimental measurements, published literature, and structural context.
L26F (p.Leu26Phe) variant details
- p.Leu26Phe
- rs1603310890
- ClinGen CA415178680
- ClinVar RCV003864667
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.06
- MetaLR 0.77
- MetaSVM 0.04
- PolyPhen-2 0.12
- SIFT 0.23
- EVE 0.12
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.0535
- Cited in: MECP2 Disorders. (PMID 20301670)