R59Q (p.Arg59Gln) variant of PAX5 (Paired box protein Pax-5)
R59Q (p.Arg59Gln) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- Ensembl rs2132503032
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.84
- MetaLR 0.98
- MetaSVM 1.14
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available