L108V (p.Leu108Val) variant of MECP2 (Methyl-CpG-binding protein 2)
L108V (p.Leu108Val) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L108V (p.Leu108Val) variant details
- p.Leu108Val
- rs1557137721
- ClinGen CA415176805
- ClinVar RCV001915903
- gnomAD rs1557137721
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 0.63
- PolyPhen-2 0.08
- SIFT 0.15
- EVE 0.68
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)