V161A (p.Val161Ala) variant of FOXP3 (Forkhead box protein P3)
V161A (p.Val161Ala) 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 0.64 / 1. The record also includes published literature.
V161A (p.Val161Ala) variant details
- p.Val161Ala
- rs1243920194
- ClinGen CA412952541
- ClinVar RCV002596127
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.37
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.11
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: IPEX Syndrome. (PMID 20301297)