S70C (p.Ser70Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
S70C (p.Ser70Cys) 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 0.54 / 1. The record also includes experimental measurements, published literature, and structural context.
S70C (p.Ser70Cys) variant details
- p.Ser70Cys
- rs2065987230
- ClinGen CA415177498
- ClinVar RCV001216969
- Ensembl rs2065987230
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.12
- MetaLR 0.79
- MetaSVM 0.29
- PolyPhen-2 0.21
- SIFT 0.00
- EVE 0.17
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.252
- Cited in: MECP2 Disorders. (PMID 20301670)