Q127* (p.Gln127Ter) variant of CARD9 (Q9H257)
Q127* (p.Gln127Ter) in CARD9 (Q9H257) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
Q127* (p.Gln127Ter) variant details
- p.Gln127Ter
- ExAC rs770545753
- gnomAD rs770545753
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)