D156G (p.Asp156Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
D156G (p.Asp156Gly) 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 0.90 / 1. The record also includes published literature and structural context.
D156G (p.Asp156Gly) variant details
- p.Asp156Gly
- rs61748407
- ClinGen CA270431
- ClinVar RCV000133121
- ClinVar RCV001267441
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. (PMID 11241840)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)