G48S (p.Gly48Ser) variant of PIM1 (P11309)
G48S (p.Gly48Ser) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- gnomAD 6-37170832-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.23
- CADD 31.00
- PolyPhen-2 0.81
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available