E46K (p.Glu46Lys) variant of CARD9 (Q9H257)
E46K (p.Glu46Lys) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- gnomAD rs1407323914
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.37
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)