A145D (p.Ala145Asp) variant of FOXP3 (Forkhead box protein P3)
A145D (p.Ala145Asp) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
A145D (p.Ala145Asp) variant details
- p.Ala145Asp
- 1000Genomes rs782528935
- ExAC rs782528935
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.51
- CADD 25.30
- PolyPhen-2 0.88
- SIFT 0.01
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available