S65L (p.Ser65Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
S65L (p.Ser65Leu) 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 0.53 / 1. The record also includes experimental measurements, published literature, and structural context.
S65L (p.Ser65Leu) variant details
- p.Ser65Leu
- rs61754437
- ClinGen CA415177555
- ClinVar RCV001007927
- Ensembl rs61754437
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.09
- MetaLR 0.79
- MetaSVM 0.34
- PolyPhen-2 0.00
- SIFT 0.34
- EVE 0.16
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.845
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)