R59Q (p.Arg59Gln) variant of CARD9 (Q9H257)
R59Q (p.Arg59Gln) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- cosmic curated COSV53738
- TOPMed rs979849048
- gnomAD rs979849048
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.25
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available