R465G (p.Arg465Gly) variant of FOXP1 (Forkhead box protein P1)
R465G (p.Arg465Gly) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual disability-severe speech delay-mild dysmorphism syndrome; Intellect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R465G (p.Arg465Gly) variant details
- p.Arg465Gly
- rs869025202
- ClinGen CA351644
- ClinVar RCV000207489
- ClinVar RCV001260764
- Pathogenic/Likely pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome; Intellect
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Pathogenic (in IDDLA)
- UniProt: Pathogenic (in IDDLA)
- Structural context available
- Cited in: Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of… (PMID 26647308)
- Cited in: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and… (PMID 20848658)