C6F (p.Cys6Phe) variant of CYP27A1 (Q02318)
C6F (p.Cys6Phe) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C6F (p.Cys6Phe) variant details
- p.Cys6Phe
- gnomAD 2-218782199-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.17
- CADD 19.40
- PolyPhen-2 0.10
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available