Y33* (p.Tyr33Ter) variant of CARD9 (Q9H257)
Y33* (p.Tyr33Ter) in CARD9 (Q9H257) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- TOPMed rs1833287477
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)