N187D (p.Asn187Asp) variant of FOXG1 (Forkhead box protein G1)
N187D (p.Asn187Asp) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
N187D (p.Asn187Asp) variant details
- p.Asn187Asp
- rs2138661139
- ClinGen CA389475361
- ClinVar RCV001775218
- Ensembl rs2138661139
- Pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.48
- ClinVar: Pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)