S93G (p.Ser93Gly) variant of LBR (Delta(14)-sterol reductase LBR)
S93G (p.Ser93Gly) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S93G (p.Ser93Gly) variant details
- p.Ser93Gly
- Ensembl rs1575230183
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available