A12R (p.Ala12Arg) variant of ITGB3 (Integrin beta-3)
A12R (p.Ala12Arg) in ITGB3 (Integrin beta-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A12R (p.Ala12Arg) variant details
- p.Ala12Arg
- gnomAD 17-47253892-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 25.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available