R57H (p.Arg57His) variant of CARD9 (Q9H257)
R57H (p.Arg57His) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Predisposition to invasive fungal disease due to CARD9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R57H (p.Arg57His) variant details
- p.Arg57His
- rs940550122
- ClinGen CA201615723
- cosmic curated COSV53733
- ClinVar RCV001064701
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.56
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System. (PMID 26679537)
- Cited in: A homozygous CARD9 mutation in a family with susceptibility to fungal infections. (PMID 19864672)