E98K (p.Glu98Lys) variant of CARD9 (Q9H257)
E98K (p.Glu98Lys) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- gnomAD rs1253739630
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.21
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available