G48S (p.Gly48Ser) variant of PAX5 (Paired box protein Pax-5)
G48S (p.Gly48Ser) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- ExAC rs770569112
- gnomAD rs770569112
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.94
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)