G42R (p.Gly42Arg) variant of FOXP3 (Forkhead box protein P3)
G42R (p.Gly42Arg) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.55 / 1. The record also includes population frequency data and published literature.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- rs782178764
- ClinGen CA10411857
- ClinVar RCV001489813
- ClinVar RCV004980551
- Conflicting interpretations
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.47
- CADD 21.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 8e-05)
- 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)