V140L (p.Val140Leu) variant of FOXP3 (Forkhead box protein P3)
V140L (p.Val140Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature.
V140L (p.Val140Leu) variant details
- p.Val140Leu
- rs1557116533
- ClinGen CA412952854
- ClinVar RCV003625879
- ClinVar RCV004765945
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.07
- MetaLR 0.77
- MetaSVM 0.19
- PolyPhen-2 0.03
- SIFT 0.01
- EVE 0.10
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: IPEX Syndrome. (PMID 20301297)