Y30D (p.Tyr30Asp) variant of CYP27B1 (O15528)
Y30D (p.Tyr30Asp) in CYP27B1 (O15528) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y30D (p.Tyr30Asp) variant details
- p.Tyr30Asp
- ExAC rs758749494
- gnomAD rs758749494
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- Population evidence available
- Structural context available