R8Q (p.Arg8Gln) variant of ITGB3 (Integrin beta-3)
R8Q (p.Arg8Gln) in ITGB3 (Integrin beta-3) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs910005054
- ClinGen CA291240277
- ClinVar RCV002817938
- TOPMed rs910005054
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- MetaLR 0.05
- MetaSVM -1.05
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.42
- 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)