S73F (p.Ser73Phe) variant of LBR (Delta(14)-sterol reductase LBR)
S73F (p.Ser73Phe) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S73F (p.Ser73Phe) variant details
- p.Ser73Phe
- ExAC rs773644529
- gnomAD rs773644529
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.54
- ESM-1b 0.97
- AlphaMissense 0.53
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available