G114A (p.Gly114Ala) variant of MECP2 (Methyl-CpG-binding protein 2)
G114A (p.Gly114Ala) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Syndromic X-linked intellectual disability Lubs type; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G114A (p.Gly114Ala) variant details
- p.Gly114Ala
- rs61755760
- ClinGen CA270359
- ClinVar RCV000133073
- ClinVar RCV005860009
- Conflicting interpretations
- Syndromic X-linked intellectual disability Lubs type; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.68
- ClinVar: Conflicting classifications of pathogenicity (Syndromic X-linked intellectual disability Lubs type; Rett syndr)
- 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)