S80F (p.Ser80Phe) variant of MECP2 (Methyl-CpG-binding protein 2)
S80F (p.Ser80Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S80F (p.Ser80Phe) variant details
- p.Ser80Phe
- rs1332969540
- ClinGen CA415177336
- ClinVar RCV002304683
- ClinVar RCV003438994
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.54
- MetaLR 0.84
- MetaSVM 0.79
- PolyPhen-2 0.50
- SIFT 0.01
- EVE 0.60
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)