A12G (p.Ala12Gly) variant of ITGB3 (Integrin beta-3)
A12G (p.Ala12Gly) 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.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- gnomAD 17-47253896-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- MetaLR 0.06
- MetaSVM -0.97
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available