A71G (p.Ala71Gly) variant of MECP2 (Methyl-CpG-binding protein 2)
A71G (p.Ala71Gly) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes experimental measurements, published literature, and structural context.
A71G (p.Ala71Gly) variant details
- p.Ala71Gly
- rs1557137874
- ClinGen CA415177484
- ClinVar RCV001361402
- ClinVar RCV004728670
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 0.13
- MetaLR 0.85
- MetaSVM 0.60
- PolyPhen-2 0.00
- SIFT 0.05
- EVE 0.20
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.697
- Cited in: MECP2 Disorders. (PMID 20301670)