P75L (p.Pro75Leu) variant of FOXP3 (Forkhead box protein P3)
P75L (p.Pro75Leu) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- rs2147949202
- ClinGen CA412953650
- ClinVar RCV001420358
- Ensembl rs2147949202
- Pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.73
- MetaLR 0.86
- MetaSVM 0.89
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.09
- ClinVar: Pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: IPEX Syndrome. (PMID 20301297)