L76V (p.Leu76Val) variant of FOXP3 (Forkhead box protein P3)
L76V (p.Leu76Val) 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 0.28 / 1. The record also includes population frequency data and published literature.
L76V (p.Leu76Val) variant details
- p.Leu76Val
- rs781921052
- ClinGen CA10411841
- ClinVar RCV003090491
- ExAC rs781921052
- Likely benign
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.28
- CADD 19.50
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Likely benign (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)