C39* (p.Cys39Ter) variant of ABCD1 (P33897)
C39* (p.Cys39Ter) in ABCD1 (P33897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C39* (p.Cys39Ter) variant details
- p.Cys39Ter
- gnomAD X-153725383-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available