T170A (p.Thr170Ala) variant of FOXP3 (Forkhead box protein P3)
T170A (p.Thr170Ala) 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 0.29 / 1. The record also includes population frequency data and published literature.
T170A (p.Thr170Ala) variant details
- p.Thr170Ala
- rs782694663
- ClinGen CA10411788
- ClinVar RCV001316532
- ClinVar RCV006376953
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.34
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-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)