R514H (p.Arg514His) variant of FOXP1 (Forkhead box protein P1)
R514H (p.Arg514His) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Intellectual disability-severe speech del. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R514H (p.Arg514His) variant details
- p.Arg514His
- rs797045586
- ClinGen CA319719
- NCI-TCGA Cosmic COSV5953
- cosmic curated COSV59537
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Intellectual disability-severe speech del
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 28.60
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Intellectual disability-s)
- EBI: Pathogenic (in IDDLA)
- UniProt: Pathogenic (in IDDLA)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)