A532V (p.Ala532Val) variant of FOXP1 (Forkhead box protein P1)
A532V (p.Ala532Val) 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 structural context.
A532V (p.Ala532Val) variant details
- p.Ala532Val
- cosmic curated COSV59547
- ExAC rs778252888
- gnomAD rs778252888
- 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