S290T (p.Ser290Thr) variant of FOXP1 (Forkhead box protein P1)
S290T (p.Ser290Thr) 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 Intellectual disability-severe speech delay-mild dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
S290T (p.Ser290Thr) variant details
- p.Ser290Thr
- rs2106869182
- ClinGen CA353562544
- cosmic curated COSV59549
- ClinVar RCV002272722
- Likely pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.75
- PolyPhen-2 0.74
- SIFT 0.01
- MutPred 0.20
- ClinVar: Likely pathogenic (Intellectual disability-severe speech delay-mild dysmorphism syn)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXP1 Syndrome. (PMID 37733892)