Q57K (p.Gln57Lys) variant of PAX5 (Paired box protein Pax-5)
Q57K (p.Gln57Lys) 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.
Q57K (p.Gln57Lys) variant details
- p.Gln57Lys
- gnomAD rs1406498440
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.87
- MetaLR 0.98
- MetaSVM 1.07
- CADD 27.00
- PolyPhen-2 0.77
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)