D98N (p.Asp98Asn) variant of FOXP3 (Forkhead box protein P3)
D98N (p.Asp98Asn) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D98N (p.Asp98Asn) variant details
- p.Asp98Asn
- rs2147949106
- ClinGen CA412953377
- ClinVar RCV002015623
- Ensembl rs2147949106
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.29
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: IPEX Syndrome. (PMID 20301297)