G103S (p.Gly103Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
G103S (p.Gly103Ser) 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 0.91 / 1. The record also includes published literature and structural context.
G103S (p.Gly103Ser) variant details
- p.Gly103Ser
- rs2065984147
- ClinGen CA415176886
- ClinVar RCV001070837
- Ensembl rs2065984147
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)