A38T (p.Ala38Thr) variant of FOXP3 (Forkhead box protein P3)
A38T (p.Ala38Thr) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- ExAC rs782239006
- TOPMed rs782239006
- gnomAD rs782239006
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.21
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.82
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available