A100P (p.Ala100Pro) variant of LBR (Delta(14)-sterol reductase LBR)
A100P (p.Ala100Pro) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A100P (p.Ala100Pro) variant details
- p.Ala100Pro
- TOPMed rs1438793970
- gnomAD rs1438793970
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available