G14S (p.Gly14Ser) variant of LBR (Delta(14)-sterol reductase LBR)
G14S (p.Gly14Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- ExAC rs773037367
- TOPMed rs773037367
- gnomAD rs773037367
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available