F28L (p.Phe28Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
F28L (p.Phe28Leu) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- rs1557137994
- ClinGen CA415178627
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.41
- MetaLR 0.69
- MetaSVM 0.04
- PolyPhen-2 0.00
- SIFT 0.54
- EVE 0.06
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.392
- Cited in: MECP2 Disorders. (PMID 20301670)