A32V (p.Ala32Val) variant of FOXP3 (Forkhead box protein P3)
A32V (p.Ala32Val) 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 0.29 / 1. The record also includes population frequency data and published literature.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs2519196902
- ClinGen CA412954198
- ClinVar RCV002750516
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.30
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.5e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)