Q47R (p.Gln47Arg) variant of PAX5 (Paired box protein Pax-5)
Q47R (p.Gln47Arg) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- ExAC rs774147019
- gnomAD rs774147019
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.73
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.11
- CADD 25.80
- PolyPhen-2 0.86
- Most common in the South Asian population (allele frequency 1.2e-05)