R101C (p.Arg101Cys) variant of CARD9 (Q9H257)
R101C (p.Arg101Cys) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as risk factor 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 0.72 / 1. The record also includes population frequency data and published literature.
R101C (p.Arg101Cys) variant details
- p.Arg101Cys
- rs398122364
- ClinGen CA145375
- cosmic curated COSV10513
- ClinVar RCV000074441
- risk factor
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.75
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: risk factor (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Population evidence available
- Cited in: Deep dermatophytosis and inherited CARD9 deficiency. (PMID 24131138)
- Cited in: A homozygous CARD9 mutation in a family with susceptibility to fungal infections. (PMID 19864672)