Q69H (p.Gln69His) variant of CARD9 (Q9H257)
Q69H (p.Gln69His) in CARD9 (Q9H257) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
Q69H (p.Gln69His) variant details
- p.Gln69His
- rs1045323623
- TOPMed rs1045323623
- gnomAD rs1045323623
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.20
- CADD 19.00
- PolyPhen-2 1.00
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 7.3e-06)