S5P (p.Ser5Pro) variant of FOXP1 (Forkhead box protein P1)
S5P (p.Ser5Pro) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of FOXP1-related disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- rs762898505
- ClinGen CA205696
- ClinVar RCV000192698
- ClinVar RCV000880214
- Conflicting interpretations
- FOXP1-related disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 28.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (FOXP1-related disorder; not specified; not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs762898505)
- UniProt: Uncertain significance (in dbSNP:rs762898505)
- Most common in the Middle Eastern population (allele frequency 0.00043)
- Structural context available
- Cited in: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and… (PMID 20848658)