Y470F (p.Tyr470Phe) variant of FOXP1 (Forkhead box protein P1)
Y470F (p.Tyr470Phe) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.95 / 1. The record also includes published literature and structural context.
Y470F (p.Tyr470Phe) variant details
- p.Tyr470Phe
- rs769448730
- ClinGen CA353493237
- ClinVar RCV001095670
- ExAC rs769448730
- Pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.92
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 1.00
- ClinVar: Pathogenic (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)