S5Y (p.Ser5Tyr) variant of FOXP1 (Forkhead box protein P1)
S5Y (p.Ser5Tyr) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Intellectual disability-severe speech delay-mild dysmorphism syndrome. The record also includes structural context.
S5Y (p.Ser5Tyr) variant details
- p.Ser5Tyr
- cosmic curated COSV59524
- Uncertain significance
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- ClinVar: Uncertain significance (Intellectual disability-severe speech delay-mild dysmorphism syn)
- UniProt: Uncertain significance (in dbSNP:rs762898505)
- Structural context available