Q131R (p.Gln131Arg) variant of CARD9 (Q9H257)
Q131R (p.Gln131Arg) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
Q131R (p.Gln131Arg) variant details
- p.Gln131Arg
- ExAC rs752622733
- gnomAD rs752622733
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.05
- CADD 24.30
- PolyPhen-2 0.52
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)