L36F (p.Leu36Phe) variant of LBR (Delta(14)-sterol reductase LBR)
L36F (p.Leu36Phe) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L36F (p.Leu36Phe) variant details
- p.Leu36Phe
- ExAC rs778289657
- gnomAD rs778289657
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.56
- ESM-1b 0.61
- AlphaMissense 0.11
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available