C21* (p.Cys21Ter) variant of ADAMTS13 (Q76LX8)
C21* (p.Cys21Ter) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C21* (p.Cys21Ter) variant details
- p.Cys21Ter
- gnomAD 9-133422506-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 29.80
- Population evidence available
- Structural context available
- Literature evidence available