I211T (p.Ile211Thr) variant of FOXG1 (Forkhead box protein G1)
I211T (p.Ile211Thr) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I211T (p.Ile211Thr) variant details
- p.Ile211Thr
- rs1594383648
- ClinGen CA389475525
- NCI-TCGA Cosmic COSV5739
- ClinVar RCV001258332
- Pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- CADD 29.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)