S69C (p.Ser69Cys) variant of LBR (Delta(14)-sterol reductase LBR)
S69C (p.Ser69Cys) 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.
S69C (p.Ser69Cys) variant details
- p.Ser69Cys
- ESP rs369299493
- ExAC rs369299493
- TOPMed rs369299493
- gnomAD rs369299493
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.60
- ESM-1b 0.86
- AlphaMissense 0.31
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available