P80R (p.Pro80Arg) variant of PAX5 (Paired box protein Pax-5)
P80R (p.Pro80Arg) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
P80R (p.Pro80Arg) variant details
- p.Pro80Arg
- rs2494512979
- ClinGen CA373488100
- ClinVar RCV000766127
- NCI-TCGA Cosmic COSV6390
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia. (PMID 30643249)
- Cited in: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. (PMID 24013638)