H46Y (p.His46Tyr) variant of PAX5 (Paired box protein Pax-5)
H46Y (p.His46Tyr) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- TOPMed rs1288960060
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.87
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.20
- PolyPhen-2 0.66
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)