P34L (p.Pro34Leu) variant of PAX5 (Paired box protein Pax-5)
P34L (p.Pro34Leu) 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 Leukemia, acute lymphoblastic, susceptibility to, 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs1839781585
- ClinGen CA373488426
- cosmic curated COSV63907
- ClinVar RCV003664225
- Uncertain significance
- Leukemia, acute lymphoblastic, susceptibility to, 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.95
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Leukemia, acute lymphoblastic, susceptibility to, 3; not provide)
- EBI: Variant of uncertain significance (in dbSNP:rs1839781585)
- UniProt: Uncertain significance (in dbSNP:rs1839781585)
- Most common in the Non-Finnish European population (allele frequency 9e-07)