C81* (p.Cys81Ter) variant of ABCA4 (P78363)
C81* (p.Cys81Ter) in ABCA4 (P78363) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C81* (p.Cys81Ter) variant details
- p.Cys81Ter
- ExAC rs747878343
- gnomAD rs747878343
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 36.00
- Population evidence available
- Structural context available