I54F (p.Ile54Phe) variant of LBR (Delta(14)-sterol reductase LBR)
I54F (p.Ile54Phe) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I54F (p.Ile54Phe) variant details
- p.Ile54Phe
- ExAC rs761536767
- gnomAD rs761536767
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 25.20
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available