G60D (p.Gly60Asp) variant of MECP2 (Methyl-CpG-binding protein 2)
G60D (p.Gly60Asp) 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 Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes experimental measurements, published literature, and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- rs2148666907
- ClinGen CA415177646
- cosmic curated COSV57653
- ClinVar RCV001378002
- Likely pathogenic
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.42
- MetaLR 0.85
- MetaSVM 0.72
- PolyPhen-2 0.11
- SIFT 0.00
- EVE 0.24
- ClinVar: Likely pathogenic (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.0512
- Cited in: MECP2 Disorders. (PMID 20301670)