A193D (p.Ala193Asp) variant of FOXG1 (Forkhead box protein G1)
A193D (p.Ala193Asp) 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 FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
A193D (p.Ala193Asp) variant details
- p.Ala193Asp
- rs2138661170
- ClinGen CA389475404
- ClinVar RCV002037016
- Ensembl rs2138661170
- Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (FOXG1 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)