S185G (p.Ser185Gly) variant of FOXG1 (Forkhead box protein G1)
S185G (p.Ser185Gly) 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 0.83 / 1. The record also includes published literature and structural context.
S185G (p.Ser185Gly) variant details
- p.Ser185Gly
- rs879255530
- ClinGen CA389475347
- ClinVar RCV001216581
- Ensembl rs879255530
- Uncertain significance
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (FOXG1 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)