D8E (p.Asp8Glu) variant of CARD9 (Q9H257)
D8E (p.Asp8Glu) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
D8E (p.Asp8Glu) variant details
- p.Asp8Glu
- 1000Genomes rs148523221
- ESP rs148523221
- ExAC rs148523221
- TOPMed rs148523221
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0524
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.53
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)