C21* (p.Cys21Ter) variant of CYP27A1 (Q02318)
C21* (p.Cys21Ter) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C21* (p.Cys21Ter) variant details
- p.Cys21Ter
- gnomAD 2-218782245-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available