K5R (p.Lys5Arg) variant of PAX5 (Paired box protein Pax-5)
K5R (p.Lys5Arg) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- gnomAD rs1430740493
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.32
- AlphaMissense 0.17
- MetaLR 0.83
- MetaSVM 0.57
- CADD 22.50
- PolyPhen-2 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)