S59C (p.Ser59Cys) variant of FOXP3 (Forkhead box protein P3)
S59C (p.Ser59Cys) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Monogenic diabe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
S59C (p.Ser59Cys) variant details
- p.Ser59Cys
- rs199917616
- ClinGen CA10411848
- ClinVar RCV000664161
- ClinVar RCV000968776
- Benign/Likely benign
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Monogenic diabe
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Benign/Likely benign (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.012)
- Cited in: IPEX Syndrome. (PMID 20301297)