D3E (p.Asp3Glu) variant of CARD9 (Q9H257)
D3E (p.Asp3Glu) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- ESP rs375098569
- ExAC rs375098569
- TOPMed rs375098569
- gnomAD rs375098569
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.06
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)