G40D (p.Gly40Asp) variant of FOXP3 (Forkhead box protein P3)
G40D (p.Gly40Asp) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- rs781805416
- ClinGen CA10411858
- ClinVar RCV001266028
- ClinVar RCV002542846
- Conflicting interpretations
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.34
- CADD 10.20
- PolyPhen-2 0.26
- 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 1KG:CDX population (allele frequency 0.0075)
- Structural context 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)