D451H (p.Asp451His) variant of FOXP1 (Forkhead box protein P1)
D451H (p.Asp451His) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Intellectual disability-severe speech delay-mild dysmorphism syndrome. The record also includes structural context.
D451H (p.Asp451His) variant details
- p.Asp451His
- cosmic curated COSV59557
- Likely pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- ClinVar: Likely pathogenic (Intellectual disability-severe speech delay-mild dysmorphism syn)
- UniProt: Likely pathogenic
- Structural context available