N232S (p.Asn232Ser) variant of FOXG1 (Forkhead box protein G1)
N232S (p.Asn232Ser) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
N232S (p.Asn232Ser) variant details
- p.Asn232Ser
- rs2138661390
- ClinGen CA389475667
- ClinVar RCV002269444
- ClinVar RCV005053993
- Pathogenic/Likely pathogenic
- not provided; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.51
- ClinVar: Pathogenic/Likely pathogenic (not provided; Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders… (PMID 26993267)
- Cited in: MECP2 Disorders. (PMID 20301670)