P192L (p.Pro192Leu) variant of FOXP3 (Forkhead box protein P3)
P192L (p.Pro192Leu) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
P192L (p.Pro192Leu) variant details
- p.Pro192Leu
- rs200396601
- ClinGen CA329136603
- ClinVar RCV003143392
- ClinVar RCV004246146
- Uncertain significance
- Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.52
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Insulin-dependent diabetes mellitus sec)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)