P99L (p.Pro99Leu) variant of CARD9 (Q9H257)
P99L (p.Pro99Leu) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- rs200248442
- ClinGen CA5333193
- ClinVar RCV002642489
- ClinVar RCV005535378
- Uncertain significance
- Inborn genetic diseases; Predisposition to invasive fungal disease due to CARD9
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.50
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Predisposition to invasive fungal disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- 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)