L2S (p.Leu2Ser) variant of PIM1 (P11309)
L2S (p.Leu2Ser) in PIM1 (P11309) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L2S (p.Leu2Ser) variant details
- p.Leu2Ser
- gnomAD 6-37170578-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available