A70V (p.Ala70Val) variant of CYP27B1 (O15528)
A70V (p.Ala70Val) in CYP27B1 (O15528) 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 and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- TOPMed rs1242617024
- gnomAD rs1242617024
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.11
- Population evidence available
- Structural context available