E146A (p.Glu146Ala) variant of CARD9 (Q9H257)
E146A (p.Glu146Ala) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
E146A (p.Glu146Ala) variant details
- p.Glu146Ala
- TOPMed rs1833256414
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.15
- CADD 24.90
- Most common in the African/African-American population (allele frequency 2.4e-05)