L124V (p.Leu124Val) variant of MECP2 (Methyl-CpG-binding protein 2)
L124V (p.Leu124Val) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L124V (p.Leu124Val) variant details
- p.Leu124Val
- rs2148666355
- ClinGen CA415176431
- ClinVar RCV002006896
- Ensembl rs2148666355
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 0.90
- PolyPhen-2 0.26
- SIFT 0.01
- EVE 0.58
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely pathogenic (in RTT)
- UniProt: Likely pathogenic (in RTT)
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)