N38S (p.Asn38Ser) variant of FOXP1 (Forkhead box protein P1)
N38S (p.Asn38Ser) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs1330345201
- ClinGen CA353565103
- ClinVar RCV003277257
- gnomAD rs1330345201
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.49
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- 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)