A12A (p.Ala12Ala) variant of ITGB3 (Integrin beta-3)
A12A (p.Ala12Ala) in ITGB3 (Integrin beta-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs751163149
- gnomAD 17-47253897-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.19
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available
- Literature evidence available