G72S (p.Gly72Ser) variant of CARD9 (Q9H257)
G72S (p.Gly72Ser) 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 0.69 / 1. The record also includes population frequency data and published literature.
G72S (p.Gly72Ser) variant details
- p.Gly72Ser
- rs398122362
- ClinGen CA145368
- ClinVar RCV000074438
- UniProt VAR 070828
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.73
- AlphaMissense 0.48
- MetaLR 0.33
- MetaSVM -0.30
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Cited in: Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. (PMID 23335372)
- Cited in: A homozygous CARD9 mutation in a family with susceptibility to fungal infections. (PMID 19864672)