A279V (p.Ala279Val) variant of MECP2 (Methyl-CpG-binding protein 2)
A279V (p.Ala279Val) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
A279V (p.Ala279Val) variant details
- p.Ala279Val
- rs61750249
- ClinGen CA270535
- ClinVar RCV000133252
- ClinVar RCV002274929
- Likely pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.09
- MetaLR 0.50
- MetaSVM -0.17
- PolyPhen-2 0.05
- SIFT 0.13
- EVE 0.13
- ClinVar: Likely pathogenic (Rett syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)