G111E (p.Gly111Glu) variant of CARD9 (Q9H257)
G111E (p.Gly111Glu) 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 0.52 / 1. The record also includes population frequency data.
G111E (p.Gly111Glu) variant details
- p.Gly111Glu
- rs371695061
- ClinGen CA201614872
- ClinVar RCV001360838
- ESP rs371695061
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.34
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)