P75S (p.Pro75Ser) variant of FOXP3 (Forkhead box protein P3)
P75S (p.Pro75Ser) 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 Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
P75S (p.Pro75Ser) variant details
- p.Pro75Ser
- rs2519195887
- ClinGen CA412953655
- ClinVar RCV002833718
- ClinVar RCV004973662
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.49
- CADD 24.70
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- 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)