S82P (p.Ser82Pro) variant of LBR (Delta(14)-sterol reductase LBR)
S82P (p.Ser82Pro) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S82P (p.Ser82Pro) variant details
- p.Ser82Pro
- TOPMed rs917913308
- gnomAD rs917913308
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available