L36P (p.Leu36Pro) variant of LBR (Delta(14)-sterol reductase LBR)
L36P (p.Leu36Pro) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- TOPMed rs1387958612
- gnomAD rs1387958612
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 26.50
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available