G48C (p.Gly48Cys) variant of PAX5 (Paired box protein Pax-5)
G48C (p.Gly48Cys) 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 0.92 / 1. The record also includes population frequency data.
G48C (p.Gly48Cys) variant details
- p.Gly48Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.94
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)