W16* (p.Trp16Ter) variant of LBR (Delta(14)-sterol reductase LBR)
W16* (p.Trp16Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- gnomAD rs1411225492
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 37.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available