P20L (p.Pro20Leu) variant of FOXP3 (Forkhead box protein P3)
P20L (p.Pro20Leu) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 published literature.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs2066089076
- ClinGen CA412954285
- cosmic curated COSV10531
- ClinVar RCV001522523
- Benign
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.07
- MetaLR 0.86
- MetaSVM 0.63
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.10
- ClinVar: Benign (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Benign
- UniProt: Benign
- Cited in: IPEX Syndrome. (PMID 20301297)