P133L (p.Pro133Leu) variant of FOXP3 (Forkhead box protein P3)
P133L (p.Pro133Leu) 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 0.54 / 1. The record also includes population frequency data.
P133L (p.Pro133Leu) variant details
- p.Pro133Leu
- rs782511378
- ClinGen CA10411813
- ClinVar RCV000258798
- ClinVar RCV004767206
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.54
- CADD 22.80
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00028)