G22A (p.Gly22Ala) variant of ITGB3 (Integrin beta-3)
G22A (p.Gly22Ala) in ITGB3 (Integrin beta-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- gnomAD 17-47253923-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 32.00
- Most common in the Ashkenazi Jewish population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available