E30Q (p.Glu30Gln) variant of PIM1 (P11309)
E30Q (p.Glu30Gln) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- gnomAD 6-37170778-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.11
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available