R34L (p.Arg34Leu) variant of ITGB3 (Integrin beta-3)
R34L (p.Arg34Leu) 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 0.61 / 1. The record also includes population frequency data and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- ExAC rs765882558
- TOPMed rs765882558
- gnomAD rs765882558
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- MetaLR 0.14
- MetaSVM -0.82
- CADD 26.30
- PolyPhen-2 0.61
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available