S34F (p.Ser34Phe) variant of LBR (Delta(14)-sterol reductase LBR)
S34F (p.Ser34Phe) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S34F (p.Ser34Phe) variant details
- p.Ser34Phe
- ExAC rs747525564
- gnomAD rs747525564
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available