I266T (p.Ile266Thr) variant of FOXG1 (Forkhead box protein G1)
I266T (p.Ile266Thr) 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 0.80 / 1. The record also includes published literature and structural context.
I266T (p.Ile266Thr) variant details
- p.Ile266Thr
- rs886041744
- ClinGen CA389475897
- ClinVar RCV003027664
- Pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.41
- ClinVar: Pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)