C30* (p.Cys30Ter) variant of ITGB4 (Integrin beta-4)
C30* (p.Cys30Ter) in ITGB4 (Integrin beta-4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C30* (p.Cys30Ter) variant details
- p.Cys30Ter
- rs2148461288
- gnomAD 17-75727203-TGCAA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 32.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available