F60L (p.Phe60Leu) variant of LBR (Delta(14)-sterol reductase LBR)
F60L (p.Phe60Leu) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F60L (p.Phe60Leu) variant details
- p.Phe60Leu
- ExAC rs763775687
- gnomAD rs763775687
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available