L44R (p.Leu44Arg) variant of PIM1 (P11309)
L44R (p.Leu44Arg) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L44R (p.Leu44Arg) variant details
- p.Leu44Arg
- gnomAD 6-37170821-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.47
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available