T135N (p.Thr135Asn) variant of FOXP3 (Forkhead box protein P3)
T135N (p.Thr135Asn) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
T135N (p.Thr135Asn) variant details
- p.Thr135Asn
- cosmic curated COSV66050
- Ensembl rs1602686569
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- CADD 14.10
- PolyPhen-2 0.17
- SIFT 0.05
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- UniProt: Uncertain significance
- Most common in the HGDP:LAHU population (allele frequency 0.17)