R465T (p.Arg465Thr) variant of FOXP1 (Forkhead box protein P1)
R465T (p.Arg465Thr) 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 0.94 / 1. The record also includes published literature and structural context.
R465T (p.Arg465Thr) variant details
- p.Arg465Thr
- rs1553668196
- ClinGen CA353493269
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10056
- Pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Pathogenic (in IDDLA)
- UniProt: Pathogenic (in IDDLA)
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)