R514C (p.Arg514Cys) variant of FOXP1 (Forkhead box protein P1)
R514C (p.Arg514Cys) 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 FOXP1-related disorder; not provided; Intellectual disability-severe speech dela. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R514C (p.Arg514Cys) variant details
- p.Arg514Cys
- rs869025203
- ClinGen CA351646
- NCI-TCGA Cosmic COSV5953
- cosmic curated COSV59538
- Pathogenic
- FOXP1-related disorder; not provided; Intellectual disability-severe speech dela
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 32.00
- ClinVar: Pathogenic (FOXP1-related disorder; not provided; Intellectual disability-se)
- EBI: Pathogenic (in IDDLA)
- UniProt: Pathogenic (in IDDLA)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)