R514P (p.Arg514Pro) variant of FOXP1 (Forkhead box protein P1)
R514P (p.Arg514Pro) 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 0.98 / 1. The record also includes published literature and structural context.
R514P (p.Arg514Pro) variant details
- p.Arg514Pro
- rs797045586
- ClinGen CA353491849
- ClinVar RCV001253006
- Ensembl rs797045586
- Likely pathogenic
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely 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)