L18F (p.Leu18Phe) variant of MECP2 (Methyl-CpG-binding protein 2)
L18F (p.Leu18Phe) 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 not provided; Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs2065991510
- ClinGen CA415178969
- ClinVar RCV001340158
- ClinVar RCV001806131
- Uncertain significance
- not provided; Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.10
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.20
- ClinVar: Uncertain significance (not provided; Severe neonatal-onset encephalopathy with microcep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.567
- Cited in: MECP2 Disorders. (PMID 20301670)