Q476P (p.Gln476Pro) variant of FOXP1 (Forkhead box protein P1)
Q476P (p.Gln476Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Q476P (p.Gln476Pro) variant details
- p.Gln476Pro
- rs2107310071
- ClinGen CA353493196
- ClinVar RCV001775305
- Ensembl rs2107310071
- Likely pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- 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)