S84C (p.Ser84Cys) variant of LBR (Delta(14)-sterol reductase LBR)
S84C (p.Ser84Cys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S84C (p.Ser84Cys) variant details
- p.Ser84Cys
- ExAC rs751124930
- TOPMed rs751124930
- gnomAD rs751124930
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available