E122D (p.Glu122Asp) variant of CARD9 (Q9H257)
E122D (p.Glu122Asp) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
E122D (p.Glu122Asp) variant details
- p.Glu122Asp
- gnomAD rs1180760730
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)