S70T (p.Ser70Thr) variant of LBR (Delta(14)-sterol reductase LBR)
S70T (p.Ser70Thr) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S70T (p.Ser70Thr) variant details
- p.Ser70Thr
- TOPMed rs1462087829
- gnomAD rs1462087829
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 24.70
- PolyPhen-2 0.63
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available