A109V (p.Ala109Val) variant of CARD9 (Q9H257)
A109V (p.Ala109Val) 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 0.33 / 1. The record also includes population frequency data and published literature.
A109V (p.Ala109Val) variant details
- p.Ala109Val
- rs760681802
- ClinGen CA5333156
- ClinVar RCV000701249
- ClinVar RCV006327127
- Uncertain significance
- Inborn genetic diseases; Predisposition to invasive fungal disease due to CARD9
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.14
- CADD 18.90
- PolyPhen-2 0.19
- SIFT 0.08
- 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 0.00017)
- 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)