T73A (p.Thr73Ala) variant of FOXP3 (Forkhead box protein P3)
T73A (p.Thr73Ala) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
T73A (p.Thr73Ala) variant details
- p.Thr73Ala
- TOPMed rs1395937139
- gnomAD rs1395937139
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.30
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)