A193V (p.Ala193Val) variant of FOXG1 (Forkhead box protein G1)
A193V (p.Ala193Val) 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 Inborn genetic diseases; 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.
A193V (p.Ala193Val) variant details
- p.Ala193Val
- rs2138661170
- ClinGen CA389475406
- ClinVar RCV003127319
- ClinVar RCV004978768
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; 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: Pathogenic/Likely pathogenic (Inborn genetic diseases; FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)