p.Gly18 Leu20del variant of ITGB3 (Integrin beta-3)
p.Gly18 Leu20del in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly18 Leu20del variant details
- gnomAD 17-47253905-TGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available