C6* (p.Cys6Ter) variant of CYP27A1 (Q02318)
C6* (p.Cys6Ter) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C6* (p.Cys6Ter) variant details
- p.Cys6Ter
- gnomAD 2-218782200-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available