R89* (p.Arg89Ter) variant of LBR (Delta(14)-sterol reductase LBR)
R89* (p.Arg89Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R89* (p.Arg89Ter) variant details
- p.Arg89Ter
- ExAC rs754015696
- gnomAD rs754015696
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 37.00
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available