S71F (p.Ser71Phe) variant of LBR (Delta(14)-sterol reductase LBR)
S71F (p.Ser71Phe) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S71F (p.Ser71Phe) variant details
- p.Ser71Phe
- TOPMed rs927660579
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.62
- ESM-1b 0.84
- AlphaMissense 0.65
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available