Q67E (p.Gln67Glu) variant of FOXP2 (Forkhead box protein P2)
Q67E (p.Gln67Glu) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood apraxia of speech. The record also includes published literature and structural context.
Q67E (p.Gln67Glu) variant details
- p.Gln67Glu
- rs759949520
- ClinGen CA10622991
- ClinVar RCV000279573
- ExAC rs759949520
- Uncertain significance
- Childhood apraxia of speech
- Missense
- ClinVar: Uncertain significance (Childhood apraxia of speech)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FOXP2-Related Speech and Language Disorder. (PMID 27336128)