T52T (p.Thr52Thr) variant of ITGB4 (Integrin beta-4)
T52T (p.Thr52Thr) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T52T (p.Thr52Thr) variant details
- p.Thr52Thr
- gnomAD 17-75727271-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0845
- CADD 0.54
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available