A8V (p.Ala8Val) variant of CYP27B1 (O15528)
A8V (p.Ala8Val) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD rs1429403278
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.11
- Population evidence available
- Structural context available