A140V (p.Ala140Val) variant of MECP2 (Methyl-CpG-binding protein 2)
A140V (p.Ala140Val) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder; Rett syndrome; X-linked intellectual disability-psy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A140V (p.Ala140Val) variant details
- p.Ala140Val
- rs28934908
- ClinGen CA121703
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57653
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder; Rett syndrome; X-linked intellectual disability-psy
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder; Rett syndrome; X-linked intellectua)
- EBI: Pathogenic (in MRXS13)
- UniProt: Pathogenic (in MRXS13)
- Population evidence available
- Structural context available
- Cited in: MECP2 mutation in male patients with non-specific X-linked mental retardation. (PMID 11007980)
- Cited in: Two affected boys in a Rett syndrome family: clinical and molecular findings. (PMID 11071498)