D51E (p.Asp51Glu) variant of CARD9 (Q9H257)
D51E (p.Asp51Glu) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- TOPMed rs1833285586
- gnomAD rs1833285586
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.19
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)