R18W (p.Arg18Trp) variant of CARD9 (Q9H257)
R18W (p.Arg18Trp) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- rs1159160299
- UniProt VAR 084630
- gnomAD rs1159160299
- Pathogenic
- in IMD103
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.86
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection. (PMID 25057046)
- Cited in: A homozygous CARD9 mutation in a family with susceptibility to fungal infections. (PMID 19864672)