A145V (p.Ala145Val) variant of FOXP3 (Forkhead box protein P3)
A145V (p.Ala145Val) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
A145V (p.Ala145Val) variant details
- p.Ala145Val
- rs782528935
- ClinGen CA277185
- ClinVar RCV000193687
- 1000Genomes rs782528935
- Likely pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.29
- CADD 28.90
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Likely pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: IPEX Syndrome. (PMID 20301297)