G24E (p.Gly24Glu) variant of PAX5 (Paired box protein Pax-5)
G24E (p.Gly24Glu) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- rs936072547
- TOPMed rs936072547
- gnomAD rs936072547
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.96
- CADD 27.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs868494257)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available