L10R (p.Leu10Arg) variant of ITGB3 (Integrin beta-3)
L10R (p.Leu10Arg) in ITGB3 (Integrin beta-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- gnomAD 17-47253887-CGCTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available