Y91H (p.Tyr91His) variant of CARD9 (Q9H257)
Y91H (p.Tyr91His) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Predisposition to invasive fungal disease due to CARD9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
Y91H (p.Tyr91His) variant details
- p.Tyr91His
- rs921151054
- ClinGen CA201615185
- ClinVar RCV000788931
- ClinVar RCV001067651
- Conflicting interpretations
- not provided; Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.78
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Predisposition to invasive fungal disease due to C)
- EBI: Pathogenic (in IMD103)
- UniProt: Pathogenic (in IMD103)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Cited in: CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy. (PMID 24704721)
- Cited in: Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians. (PMID 26521038)