S73C (p.Ser73Cys) variant of LBR (Delta(14)-sterol reductase LBR)
S73C (p.Ser73Cys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S73C (p.Ser73Cys) variant details
- p.Ser73Cys
- rs773644529
- ClinGen CA345001741
- ClinVar RCV002278768
- ExAC rs773644529
- Uncertain significance
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 29.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Connective tissue disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available