A16G (p.Ala16Gly) variant of ITGB3 (Integrin beta-3)
A16G (p.Ala16Gly) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- gnomAD 17-47253908-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- MetaLR 0.08
- MetaSVM -0.98
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available