S23L (p.Ser23Leu) variant of FOXP3 (Forkhead box protein P3)
S23L (p.Ser23Leu) 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 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.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- ExAC rs782304327
- gnomAD rs782304327
- Uncertain significance
- Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.24
- CADD 9.43
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases; Insulin-dependent diabetes mellitus sec)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00071)