R2L (p.Arg2Leu) variant of ITGB3 (Integrin beta-3)
R2L (p.Arg2Leu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R2L (p.Arg2Leu) variant details
- p.Arg2Leu
- gnomAD 17-47253866-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available