L69V (p.Leu69Val) variant of FOXP3 (Forkhead box protein P3)
L69V (p.Leu69Val) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- rs376970698
- ClinGen CA10411847
- ClinVar RCV003066945
- ESP rs376970698
- Likely benign
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.30
- CADD 23.50
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Likely benign (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Cited in: IPEX Syndrome. (PMID 20301297)