S4C (p.Ser4Cys) variant of PIM1 (P11309)
S4C (p.Ser4Cys) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- gnomAD 6-37170586-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.29
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available