C17S (p.Cys17Ser) variant of PIM1 (P11309)
C17S (p.Cys17Ser) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
C17S (p.Cys17Ser) variant details
- p.Cys17Ser
- 1000Genomes rs532972131
- TOPMed rs532972131
- gnomAD rs532972131
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.08
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available