S37* (p.Ser37Ter) variant of CYP27A1 (Q02318)
S37* (p.Ser37Ter) 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.
S37* (p.Ser37Ter) variant details
- p.Ser37Ter
- gnomAD 2-218782292-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available