R8L (p.Arg8Leu) variant of ITGB3 (Integrin beta-3)
R8L (p.Arg8Leu) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- TOPMed rs910005054
- gnomAD rs910005054
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- MetaLR 0.05
- MetaSVM -1.04
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available