F523S (p.Phe523Ser) variant of FOXP1 (Forkhead box protein P1)
F523S (p.Phe523Ser) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual disability-severe speech delay-mild dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
F523S (p.Phe523Ser) variant details
- p.Phe523Ser
- rs1559602593
- ClinGen CA353491746
- NCI-TCGA Cosmic COSV5954
- ClinVar RCV000678982
- Conflicting interpretations
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)