S19G (p.Ser19Gly) variant of LBR (Delta(14)-sterol reductase LBR)
S19G (p.Ser19Gly) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- ExAC rs774206199
- gnomAD rs774206199
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available