G18A (p.Gly18Ala) variant of ITGB3 (Integrin beta-3)
G18A (p.Gly18Ala) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- gnomAD 17-47253914-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- MetaLR 0.05
- MetaSVM -1.07
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available