S197I (p.Ser197Ile) variant of FOXG1 (Forkhead box protein G1)
S197I (p.Ser197Ile) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; FOXG1 disorder; Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
S197I (p.Ser197Ile) variant details
- p.Ser197Ile
- rs1881802605
- ClinGen CA389475430
- ClinVar RCV001253307
- ClinVar RCV001819960
- Pathogenic/Likely pathogenic
- not provided; FOXG1 disorder; Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (not provided; FOXG1 disorder; Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)
- Cited in: MECP2 Disorders. (PMID 20301670)