C38C (p.Cys38Cys) variant of ITGB4 (Integrin beta-4)
C38C (p.Cys38Cys) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C38C (p.Cys38Cys) variant details
- p.Cys38Cys
- rs1198478947
- gnomAD 17-75727229-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 11.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available