Y4H (p.Tyr4His) variant of CARD9 (Q9H257)
Y4H (p.Tyr4His) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Predisposition to invasive fungal disease due to CARD9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
Y4H (p.Tyr4His) variant details
- p.Tyr4His
- rs775128842
- ClinGen CA5333275
- ClinVar RCV001035607
- ClinVar RCV004963000
- Uncertain significance
- Inborn genetic diseases; Predisposition to invasive fungal disease due to CARD9
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.10
- CADD 23.40
- PolyPhen-2 0.60
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases; Predisposition to invasive fungal disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)