R14L (p.Arg14Leu) variant of CYP27B1 (O15528)
R14L (p.Arg14Leu) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- ESP rs372223837
- ExAC rs372223837
- TOPMed rs372223837
- gnomAD rs372223837
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available