G18R (p.Gly18Arg) variant of ITGB3 (Integrin beta-3)
G18R (p.Gly18Arg) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- ExAC rs749973154
- TOPMed rs749973154
- gnomAD rs749973154
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- MetaLR 0.11
- MetaSVM -1.03
- CADD 25.10
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available