G16D (p.Gly16Asp) variant of CARD9 (Q9H257)
G16D (p.Gly16Asp) 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 0.23 / 1. The record also includes population frequency data and published literature.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- rs1833289004
- ClinGen CA375546516
- cosmic curated COSV53733
- ClinVar RCV002954827
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.09
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)