R57C (p.Arg57Cys) variant of PIM1 (P11309)
R57C (p.Arg57Cys) in PIM1 (P11309) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R57C (p.Arg57Cys) variant details
- p.Arg57Cys
- rs1222607867
- NCI-TCGA Cosmic COSV6516
- TOPMed rs1222607867
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.47
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available