S66N (p.Ser66Asn) variant of PAX5 (Paired box protein Pax-5)
S66N (p.Ser66Asn) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute lymphoid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature.
S66N (p.Ser66Asn) variant details
- p.Ser66Asn
- rs2132502937
- ClinGen CA373488215
- NCI-TCGA Cosmic COSV9905
- ClinVar RCV003444137
- Uncertain significance
- Acute lymphoid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 0.89
- SIFT 0.00
- MutPred 0.92
- ClinVar: Uncertain significance (Acute lymphoid leukemia)
- EBI: Variant of uncertain significance (in dbSNP:rs2132502937)
- UniProt: Uncertain significance (in dbSNP:rs2132502937)
- Cited in: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. (PMID 24013638)