G473E (p.Gly473Glu) variant of FOXP2 (Forkhead box protein P2)
G473E (p.Gly473Glu) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Childhood apraxia of speech. The record also includes published literature.
G473E (p.Gly473Glu) variant details
- p.Gly473Glu
- rs2485474457
- ClinVar RCV004594958
- Likely pathogenic
- Childhood apraxia of speech
- Missense
- ClinVar: Likely pathogenic (Childhood apraxia of speech)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: FOXP2-Related Speech and Language Disorder. (PMID 27336128)