I194S (p.Ile194Ser) variant of FOXG1 (Forkhead box protein G1)
I194S (p.Ile194Ser) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
I194S (p.Ile194Ser) variant details
- p.Ile194Ser
- rs2138661171
- ClinGen CA389475412
- ClinVar RCV001785293
- ClinVar RCV003442906
- Likely pathogenic
- not provided; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (not provided; FOXG1 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)