D43N (p.Asp43Asn) variant of CARD9 (Q9H257)
D43N (p.Asp43Asn) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- gnomAD rs1359993470
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.14
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)