L119P (p.Leu119Pro) variant of CARD9 (Q9H257)
L119P (p.Leu119Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
L119P (p.Leu119Pro) variant details
- p.Leu119Pro
- rs1171915203
- ClinGen CA375545645
- ClinVar RCV002865538
- gnomAD rs1171915203
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)