S84F (p.Ser84Phe) variant of LBR (Delta(14)-sterol reductase LBR)
S84F (p.Ser84Phe) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S84F (p.Ser84Phe) variant details
- p.Ser84Phe
- cosmic curated COSV10808
- ExAC rs751124930
- TOPMed rs751124930
- gnomAD rs751124930
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available