S19P (p.Ser19Pro) variant of FOXP3 (Forkhead box protein P3)
S19P (p.Ser19Pro) in FOXP3 (Forkhead box protein P3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S19P (p.Ser19Pro) variant details
- p.Ser19Pro
- Ensembl rs2147949715
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the East Asian population (allele frequency 6.8e-05)
- Structural context available