R18L (p.Arg18Leu) variant of CARD9 (Q9H257)
R18L (p.Arg18Leu) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- ESP rs372586424
- TOPMed rs372586424
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.64
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available