E68K (p.Glu68Lys) variant of PDGFRB (P09619)
E68K (p.Glu68Lys) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- TOPMed rs1760609426
- gnomAD rs1760609426
- Missense
- Variant Prioritization Score for Impact Estimate 0.091
- REVEL 0.05
- CADD 7.73
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available