P174R (p.Pro174Arg) variant of FOXP3 (Forkhead box protein P3)
P174R (p.Pro174Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
P174R (p.Pro174Arg) variant details
- p.Pro174Arg
- rs370358803
- ClinGen CA10411787
- ClinVar RCV003098957
- ClinVar RCV004750266
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.38
- CADD 21.10
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)