Q117H (p.Gln117His) variant of CARD9 (Q9H257)
Q117H (p.Gln117His) 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.
Q117H (p.Gln117His) variant details
- p.Gln117His
- ExAC rs775922619
- gnomAD rs775922619
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)