T469I (p.Thr469Ile) variant of FOXP1 (Forkhead box protein P1)
T469I (p.Thr469Ile) 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 not provided; Intellectual disability-severe speech delay-mild dysmorphism syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
T469I (p.Thr469Ile) variant details
- p.Thr469Ile
- rs2037853932
- ClinGen CA353493241
- ClinVar RCV001171584
- ClinVar RCV002464401
- Likely pathogenic
- not provided; Intellectual disability-severe speech delay-mild dysmorphism syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (not provided; Intellectual disability-severe speech delay-mild d)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)