E30K (p.Glu30Lys) variant of PIM1 (P11309)
E30K (p.Glu30Lys) in PIM1 (P11309) is a missense change. Clinical records from ClinVar and UniProt describe it as tier iii - unknown in the context of Primary central nervous system lymphoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- TOPMed rs1451151403
- gnomAD rs1451151403
- Tier III - Unknown
- Primary central nervous system lymphoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.20
- CADD 23.80
- ClinVar: Tier III - Unknown (Primary central nervous system lymphoma)
- UniProt: Tier iii - unknown
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available