S97P (p.Ser97Pro) variant of LBR (Delta(14)-sterol reductase LBR)
S97P (p.Ser97Pro) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S97P (p.Ser97Pro) variant details
- p.Ser97Pro
- ExAC rs776142084
- gnomAD rs776142084
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.05
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available