A33A (p.Ala33Ala) variant of ITGB4 (Integrin beta-4)
A33A (p.Ala33Ala) in ITGB4 (Integrin beta-4) 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.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- rs1269062146
- gnomAD 17-75727214-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.77
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available