G24R (p.Gly24Arg) variant of PAX5 (Paired box protein Pax-5)
G24R (p.Gly24Arg) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- rs868494257
- cosmic curated COSV10527
- UniProt VAR 070672
- Ensembl rs868494257
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- Structural context available
- Cited in: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. (PMID 24013638)