M1L (p.Met1Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
M1L (p.Met1Leu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes experimental measurements, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs786205892
- ClinGen CA274831
- ClinVar RCV000172861
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- MetaLR 0.82
- MetaSVM 0.35
- PolyPhen-2 0.00
- SIFT 0.14
- MutPred 0.97
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.0189
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)