G28G (p.Gly28Gly) variant of PIM1 (P11309)
G28G (p.Gly28Gly) in PIM1 (P11309) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G28G (p.Gly28Gly) variant details
- p.Gly28Gly
- rs759956612
- gnomAD 6-37170774-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 19.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available
- Literature evidence available