R57C (p.Arg57Cys) variant of CARD9 (Q9H257)
R57C (p.Arg57Cys) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R57C (p.Arg57Cys) variant details
- p.Arg57Cys
- TOPMed rs1040324141
- gnomAD rs1040324141
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.59
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available