A92V (p.Ala92Val) variant of CYP27B1 (O15528)
A92V (p.Ala92Val) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes structural context.
A92V (p.Ala92Val) variant details
- p.Ala92Val
- TOPMed rs1203721715
- gnomAD rs1203721715
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.08
- ESM-1b 0.63
- AlphaMissense 0.10
- Structural context available