E81* (p.Glu81Ter) variant of CARD9 (Q9H257)
E81* (p.Glu81Ter) in CARD9 (Q9H257) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E81* (p.Glu81Ter) variant details
- p.Glu81Ter
- ExAC rs748704811
- TOPMed rs748704811
- gnomAD rs748704811
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 39.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available