R59W (p.Arg59Trp) variant of CARD9 (Q9H257)
R59W (p.Arg59Trp) in CARD9 (Q9H257) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R59W (p.Arg59Trp) variant details
- p.Arg59Trp
- rs907791516
- NCI-TCGA Cosmic COSV5373
- cosmic curated COSV53732
- TOPMed rs907791516
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.36
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available