S42C (p.Ser42Cys) variant of FOXP2 (Forkhead box protein P2)
S42C (p.Ser42Cys) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FOXP2-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S42C (p.Ser42Cys) variant details
- p.Ser42Cys
- rs754271344
- ClinGen CA4445660
- ClinVar RCV002430227
- ClinVar RCV003408253
- Uncertain significance
- FOXP2-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.09
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (FOXP2-related disorder; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)