I478S (p.Ile478Ser) variant of FOXP1 (Forkhead box protein P1)
I478S (p.Ile478Ser) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability-severe speech delay-mild dysmorphism syndrome. The record also includes published literature and structural context.
I478S (p.Ile478Ser) variant details
- p.Ile478Ser
- rs2545110718
- ClinVar RCV004594852
- Likely pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- ClinVar: Likely pathogenic (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)