C6C (p.Cys6Cys) variant of CYP27A1 (Q02318)
C6C (p.Cys6Cys) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C6C (p.Cys6Cys) variant details
- p.Cys6Cys
- gnomAD 2-218782200-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available