E146G (p.Glu146Gly) variant of CARD9 (Q9H257)
E146G (p.Glu146Gly) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
E146G (p.Glu146Gly) variant details
- p.Glu146Gly
- TOPMed rs1833256414
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.19
- CADD 26.30
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)