A21G (p.Ala21Gly) variant of ITGB3 (Integrin beta-3)
A21G (p.Ala21Gly) 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 0.45 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- ExAC rs772418775
- TOPMed rs772418775
- gnomAD rs772418775
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- MetaLR 0.05
- MetaSVM -1.08
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available