A113S (p.Ala113Ser) variant of FOXP3 (Forkhead box protein P3)
A113S (p.Ala113Ser) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and published literature.
A113S (p.Ala113Ser) variant details
- p.Ala113Ser
- rs1398753395
- ClinGen CA412953176
- ClinVar RCV000797311
- ClinVar RCV005841633
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.21
- CADD 4.82
- PolyPhen-2 0.09
- SIFT 0.37
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- 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)