G271D (p.Gly271Asp) variant of FOXG1 (Forkhead box protein G1)
G271D (p.Gly271Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
G271D (p.Gly271Asp) variant details
- p.Gly271Asp
- rs796052469
- ClinGen CA314624
- NCI-TCGA Cosmic COSV5739
- ClinVar RCV000187466
- Likely pathogenic
- FOXG1 disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.50
- ClinVar: Likely pathogenic (FOXG1 disorder; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)