R74T (p.Arg74Thr) variant of LBR (Delta(14)-sterol reductase LBR)
R74T (p.Arg74Thr) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R74T (p.Arg74Thr) variant details
- p.Arg74Thr
- TOPMed rs978293896
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.91
- CADD 26.60
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available