N253D (p.Asn253Asp) variant of FOXG1 (Forkhead box protein G1)
N253D (p.Asn253Asp) 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 FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
N253D (p.Asn253Asp) variant details
- p.Asn253Asp
- rs587783641
- ClinGen CA172193
- ClinVar RCV000145995
- Ensembl rs587783641
- Pathogenic/Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Pathogenic/Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)