G66S (p.Gly66Ser) variant of LBR (Delta(14)-sterol reductase LBR)
G66S (p.Gly66Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G66S (p.Gly66Ser) variant details
- p.Gly66Ser
- ExAC rs776841930
- gnomAD rs776841930
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available