Q27R (p.Gln27Arg) variant of FBXW7 (Q969H0)
Q27R (p.Gln27Arg) in FBXW7 (Q969H0) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs1019191519
- ClinGen CA108595471
- ClinVar RCV003367541
- gnomAD rs1019191519
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)