E9K (p.Glu9Lys) variant of CARD9 (Q9H257)
E9K (p.Glu9Lys) 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 0.17 / 1. The record also includes population frequency data.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs369865691
- ClinGen CA5333268
- ClinVar RCV000824334
- ESP rs369865691
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- CADD 9.84
- PolyPhen-2 0.04
- SIFT 0.54
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)