C6Y (p.Cys6Tyr) variant of CYP27A1 (Q02318)
C6Y (p.Cys6Tyr) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C6Y (p.Cys6Tyr) variant details
- p.Cys6Tyr
- gnomAD rs1475867060
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.21
- CADD 18.30
- PolyPhen-2 0.20
- SIFT 0.86
- Population evidence available
- Structural context available