L20Q (p.Leu20Gln) variant of ITGB3 (Integrin beta-3)
L20Q (p.Leu20Gln) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L20Q (p.Leu20Gln) variant details
- p.Leu20Gln
- gnomAD 17-47253920-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- MetaLR 0.06
- MetaSVM -1.09
- CADD 29.10
- PolyPhen-2 0.05
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available