L118V (p.Leu118Val) variant of FOXP3 (Forkhead box protein P3)
L118V (p.Leu118Val) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
L118V (p.Leu118Val) variant details
- p.Leu118Val
- rs1373580534
- ClinGen CA412953123
- ClinVar RCV002173417
- ClinVar RCV005834199
- Conflicting interpretations
- Inborn genetic diseases; Insulin-dependent diabetes mellitus secretory diarrhea
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.29
- CADD 19.80
- PolyPhen-2 0.10
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Insulin-dependent diabetes mellitus sec)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)