E30del (p.Glu30del) variant of PIM1 (P11309)
E30del (p.Glu30del) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E30del (p.Glu30del) variant details
- rs942893612
- gnomAD 6-37170775-AAGG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 22.70
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- Literature evidence available