I99L (p.Ile99Leu) variant of PAX5 (Paired box protein Pax-5)
I99L (p.Ile99Leu) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data.
I99L (p.Ile99Leu) variant details
- p.Ile99Leu
- Ensembl rs1564078870
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.89
- AlphaMissense 0.80
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.80
- PolyPhen-2 0.99
- Most common in the East Asian population (allele frequency 2.5e-05)