R4Q (p.Arg4Gln) variant of ITGB3 (Integrin beta-3)
R4Q (p.Arg4Gln) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- gnomAD 17-47253872-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- MetaLR 0.04
- MetaSVM -1.07
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available