R14L (p.Arg14Leu) variant of CYP27A1 (Q02318)
R14L (p.Arg14Leu) 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.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- gnomAD 2-218782223-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.15
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available