W11L (p.Trp11Leu) variant of CYP27A1 (Q02318)
W11L (p.Trp11Leu) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
W11L (p.Trp11Leu) variant details
- p.Trp11Leu
- gnomAD 2-218782214-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available