R35W (p.Arg35Trp) variant of CYP27B1 (O15528)
R35W (p.Arg35Trp) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- ExAC rs754122776
- TOPMed rs754122776
- gnomAD rs754122776
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.18
- Population evidence available
- Structural context available