V264G (p.Val264Gly) variant of FOXG1 (Forkhead box protein G1)
V264G (p.Val264Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
V264G (p.Val264Gly) variant details
- p.Val264Gly
- rs1881808715
- ClinGen CA389475884
- ClinVar RCV002791502
- Pathogenic/Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.84
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.48
- ClinVar: Pathogenic/Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)