V26G (p.Val26Gly) variant of PAX5 (Paired box protein Pax-5)
V26G (p.Val26Gly) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute lymphoid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and published literature.
V26G (p.Val26Gly) variant details
- p.Val26Gly
- rs926053251
- ClinGen CA193163991
- NCI-TCGA Cosmic COSV6390
- cosmic curated COSV63904
- Likely pathogenic
- Acute lymphoid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 1.01
- CADD 29.60
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Likely pathogenic (Acute lymphoid leukemia)
- EBI: Likely pathogenic (in dbSNP:rs926053251)
- UniProt: Likely pathogenic (in dbSNP:rs926053251)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. (PMID 24013638)