I30M (p.Ile30Met) variant of ITGB3 (Integrin beta-3)
I30M (p.Ile30Met) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I30M (p.Ile30Met) variant details
- p.Ile30Met
- gnomAD 17-47274429-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- MetaLR 0.12
- MetaSVM -0.89
- CADD 23.90
- PolyPhen-2 0.46
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available