P56S (p.Pro56Ser) variant of LBR (Delta(14)-sterol reductase LBR)
P56S (p.Pro56Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- TOPMed rs1254466472
- gnomAD rs1254466472
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available