N232Y (p.Asn232Tyr) variant of FOXG1 (Forkhead box protein G1)
N232Y (p.Asn232Tyr) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
N232Y (p.Asn232Tyr) variant details
- p.Asn232Tyr
- rs786205486
- ClinGen CA235903
- ClinVar RCV000171221
- ClinVar RCV005053932
- Conflicting interpretations
- not provided; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Conflicting classifications of pathogenicity (not provided; Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)