R4L (p.Arg4Leu) variant of ITGB3 (Integrin beta-3)
R4L (p.Arg4Leu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 17-47253872-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- MetaLR 0.04
- MetaSVM -1.05
- CADD 9.80
- PolyPhen-2 0.00
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available