E4K (p.Glu4Lys) variant of PAX5 (Paired box protein Pax-5)
E4K (p.Glu4Lys) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- gnomAD rs1191743397
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.40
- MetaLR 0.86
- MetaSVM 0.60
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)