V161G (p.Val161Gly) variant of FOXP3 (Forkhead box protein P3)
V161G (p.Val161Gly) 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 0.56 / 1. The record also includes population frequency data.
V161G (p.Val161Gly) variant details
- p.Val161Gly
- TOPMed rs1243920194
- gnomAD rs1243920194
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.52
- AlphaMissense 0.37
- MetaLR 0.87
- MetaSVM 0.82
- CADD 22.60
- PolyPhen-2 0.77
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)