R101L (p.Arg101Leu) variant of CARD9 (Q9H257)
R101L (p.Arg101Leu) 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 0.59 / 1. The record also includes population frequency data and published literature.
R101L (p.Arg101Leu) variant details
- p.Arg101Leu
- UniProt VAR 084636
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.46
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Population evidence available
- Cited in: A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis. (PMID 26044242)
- Cited in: A homozygous CARD9 mutation in a family with susceptibility to fungal infections. (PMID 19864672)