E112G (p.Glu112Gly) variant of CARD9 (Q9H257)
E112G (p.Glu112Gly) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
E112G (p.Glu112Gly) variant details
- p.Glu112Gly
- Ensembl rs1833259560
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.22
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)