N227D (p.Asn227Asp) variant of FOXG1 (Forkhead box protein G1)
N227D (p.Asn227Asp) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
N227D (p.Asn227Asp) variant details
- p.Asn227Asp
- rs1881805333
- ClinGen CA389475635
- ClinVar RCV001315175
- Ensembl rs1881805333
- Uncertain significance
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Uncertain significance (FOXG1 disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)