P7R (p.Pro7Arg) variant of ITGB3 (Integrin beta-3)
P7R (p.Pro7Arg) in ITGB3 (Integrin beta-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- gnomAD 17-47253877-CGGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available