C83* (p.Cys83Ter) variant of MYLK (Q15746)
C83* (p.Cys83Ter) in MYLK (Q15746) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
C83* (p.Cys83Ter) variant details
- p.Cys83Ter
- gnomAD 3-123617792-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 7.93
- Population evidence available
- Structural context available
- Literature evidence available