A137T (p.Ala137Thr) variant of FOXP3 (Forkhead box protein P3)
A137T (p.Ala137Thr) 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 Monogenic diabetes; Insulin-dependent diabetes mellitus secretory diarrhea syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
A137T (p.Ala137Thr) variant details
- p.Ala137Thr
- rs1057524899
- ClinGen CA16609262
- cosmic curated COSV10971
- ClinVar RCV000445467
- Uncertain significance
- Monogenic diabetes; Insulin-dependent diabetes mellitus secretory diarrhea syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.26
- CADD 0.25
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Monogenic diabetes; Insulin-dependent diabetes mellitus secretor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)