G44R (p.Gly44Arg) variant of LBR (Delta(14)-sterol reductase LBR)
G44R (p.Gly44Arg) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- TOPMed rs1481655481
- gnomAD rs1481655481
- cosmic curated COSV10505
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 26.30
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available