G45D (p.Gly45Asp) variant of PIM1 (P11309)
G45D (p.Gly45Asp) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- gnomAD 6-37170824-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- CADD 30.00
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available