G148V (p.Gly148Val) variant of FOXP3 (Forkhead box protein P3)
G148V (p.Gly148Val) 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 Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
G148V (p.Gly148Val) variant details
- p.Gly148Val
- ExAC rs782776637
- gnomAD rs782776637
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.62
- CADD 24.60
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)