D44E (p.Asp44Glu) variant of CARD9 (Q9H257)
D44E (p.Asp44Glu) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- TOPMed rs931686923
- gnomAD rs931686923
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.44
- CADD 14.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)