W11C (p.Trp11Cys) variant of CYP27A1 (Q02318)
W11C (p.Trp11Cys) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
W11C (p.Trp11Cys) variant details
- p.Trp11Cys
- gnomAD 2-218782215-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.34
- CADD 24.00
- PolyPhen-2 0.34
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available