S2L (p.Ser2Leu) variant of CARD9 (Q9H257)
S2L (p.Ser2Leu) 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 0.33 / 1. The record also includes population frequency data.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- rs995161906
- ClinGen CA201615901
- ClinVar RCV002795045
- TOPMed rs995161906
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.05
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)