L85F (p.Leu85Phe) variant of CARD9 (Q9H257)
L85F (p.Leu85Phe) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L85F (p.Leu85Phe) variant details
- p.Leu85Phe
- rs1239721232
- ClinGen CA375546039
- ClinVar RCV003266785
- TOPMed rs1239721232
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.22
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)