T73S (p.Thr73Ser) variant of FOXP3 (Forkhead box protein P3)
T73S (p.Thr73Ser) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
T73S (p.Thr73Ser) variant details
- p.Thr73Ser
- TOPMed rs1395937139
- gnomAD rs1395937139
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.32
- CADD 22.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)