R18Q (p.Arg18Gln) variant of CARD9 (Q9H257)
R18Q (p.Arg18Gln) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- ESP rs372586424
- TOPMed rs372586424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.52
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in IMD103)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available