A15T (p.Ala15Thr) variant of FOXP3 (Forkhead box protein P3)
A15T (p.Ala15Thr) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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 0.23 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- TOPMed rs1557116756
- gnomAD rs1557116756
- Uncertain significance
- Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.19
- CADD 11.40
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; Insulin-dependent diabetes mellitus sec)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.7e-05)
- Structural context available