R35Q (p.Arg35Gln) variant of CARD9 (Q9H257)
R35Q (p.Arg35Gln) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD103. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- rs1454037218
- UniProt VAR 084632
- TOPMed rs1454037218
- gnomAD rs1454037218
- Pathogenic
- in IMD103
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.38
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis… (PMID 25702837)
- Cited in: Structures of autoinhibited and polymerized forms of CARD9 reveal mechanisms of CARD9 and CARD11 activation. (PMID 31296852)