R89L (p.Arg89Leu) variant of LBR (Delta(14)-sterol reductase LBR)
R89L (p.Arg89Leu) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R89L (p.Arg89Leu) variant details
- p.Arg89Leu
- ExAC rs766513028
- TOPMed rs766513028
- gnomAD rs766513028
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.67
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.07
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available