A18V (p.Ala18Val) variant of CYP27B1 (O15528)
A18V (p.Ala18Val) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD rs1271030322
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- Population evidence available
- Structural context available