S3G (p.Ser3Gly) variant of LBR (Delta(14)-sterol reductase LBR)
S3G (p.Ser3Gly) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S3G (p.Ser3Gly) variant details
- p.Ser3Gly
- gnomAD rs1481485031
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available