G7A (p.Gly7Ala) variant of FOXP3 (Forkhead box protein P3)
G7A (p.Gly7Ala) 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 Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- rs2066089464
- ClinGen CA412954364
- ClinVar RCV002757080
- ClinVar RCV005045401
- Conflicting interpretations
- Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.35
- CADD 1.35
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Insulin-dependent diabetes mellitus sec)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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)