D53V (p.Asp53Val) variant of PAX5 (Paired box protein Pax-5)
D53V (p.Asp53Val) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature.
D53V (p.Asp53Val) variant details
- p.Asp53Val
- rs2132503160
- cosmic curated COSV63905
- UniProt VAR 070675
- Ensembl rs2132503160
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.20
- MutPred 0.71
- Cited in: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. (PMID 24013638)