R89Q (p.Arg89Gln) variant of LBR (Delta(14)-sterol reductase LBR)
R89Q (p.Arg89Gln) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R89Q (p.Arg89Gln) variant details
- p.Arg89Gln
- ExAC rs766513028
- TOPMed rs766513028
- gnomAD rs766513028
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 26.70
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available