E74Q (p.Glu74Gln) variant of PAX5 (Paired box protein Pax-5)
E74Q (p.Glu74Gln) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data.
E74Q (p.Glu74Gln) variant details
- p.Glu74Gln
- gnomAD rs1839287837
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 1.03
- CADD 26.50
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)