E15D (p.Glu15Asp) variant of CARD9 (Q9H257)
E15D (p.Glu15Asp) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- TOPMed rs971785161
- gnomAD rs971785161
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)