A19R (p.Ala19Arg) variant of ITGB3 (Integrin beta-3)
A19R (p.Ala19Arg) in ITGB3 (Integrin beta-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A19R (p.Ala19Arg) variant details
- p.Ala19Arg
- rs1302506624
- gnomAD 17-47253911-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 32.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.1e-05)
- Structural context available
- Literature evidence available