G20S (p.Gly20Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
G20S (p.Gly20Ser) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs1557138023
- ClinGen CA415178875
- ClinVar RCV003860690
- gnomAD rs1557138023
- Likely benign
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.10
- MetaLR 0.85
- MetaSVM 0.52
- PolyPhen-2 0.01
- SIFT 0.06
- EVE 0.16
- ClinVar: Likely benign (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.0057
- Cited in: MECP2 Disorders. (PMID 20301670)