W225G (p.Trp225Gly) variant of FOXG1 (Forkhead box protein G1)
W225G (p.Trp225Gly) 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 FOXG1 disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
W225G (p.Trp225Gly) variant details
- p.Trp225Gly
- rs1555321325
- ClinGen CA389475621
- ClinVar RCV003631055
- ClinVar RCV005335855
- Pathogenic/Likely pathogenic
- FOXG1 disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (FOXG1 disorder; Inborn genetic diseases)
- 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)