p.Phe49 Gly50del variant of PIM1 (P11309)
p.Phe49 Gly50del in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Phe49 Gly50del variant details
- rs1224995800
- gnomAD 6-37170830-GCGGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available