Q131E (p.Gln131Glu) variant of CARD9 (Q9H257)
Q131E (p.Gln131Glu) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
Q131E (p.Gln131Glu) variant details
- p.Gln131Glu
- gnomAD rs1833257712
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.05
- CADD 22.60
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)