H102Q (p.His102Gln) variant of LBR (Delta(14)-sterol reductase LBR)
H102Q (p.His102Gln) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H102Q (p.His102Gln) variant details
- p.His102Gln
- 1000Genomes rs199784853
- ExAC rs199784853
- TOPMed rs199784853
- gnomAD rs199784853
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available