Y4* (p.Tyr4Ter) variant of CARD9 (Q9H257)
Y4* (p.Tyr4Ter) in CARD9 (Q9H257) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
Y4* (p.Tyr4Ter) variant details
- p.Tyr4Ter
- 1000Genomes rs35051231
- ESP rs35051231
- ExAC rs35051231
- TOPMed rs35051231
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)