P34Q (p.Pro34Gln) variant of PAX5 (Paired box protein Pax-5)
P34Q (p.Pro34Gln) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- rs1839781585
- cosmic curated COSV63912
- UniProt VAR 070674
- TOPMed rs1839781585
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- EBI: Variant of uncertain significance (in dbSNP:rs1839781585)
- UniProt: Uncertain significance (in dbSNP:rs1839781585)
- Cited in: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. (PMID 24013638)