Y91* (p.Tyr91Ter) variant of CARD9 (Q9H257)
Y91* (p.Tyr91Ter) in CARD9 (Q9H257) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD103. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
Y91* (p.Tyr91Ter) variant details
- p.Tyr91Ter
- rs766061901
- ClinGen CA375545960
- ClinVar RCV002834586
- Pathogenic
- in IMD103
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 36.00
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Population evidence available