F502L (p.Phe502Leu) variant of FOXP1 (Forkhead box protein P1)
F502L (p.Phe502Leu) 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 0.95 / 1. The record also includes published literature and structural context.
F502L (p.Phe502Leu) variant details
- p.Phe502Leu
- rs1057524152
- ClinGen CA16604636
- ClinVar RCV000429800
- ClinVar RCV002289577
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Intellectual disability-severe speech del
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Intellectual disability-s)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)