R99Q (p.Arg99Gln) variant of CYP27B1 (O15528)
R99Q (p.Arg99Gln) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R99Q (p.Arg99Gln) variant details
- p.Arg99Gln
- TOPMed rs1206202382
- gnomAD rs1206202382
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.20
- Population evidence available
- Structural context available