Y23F (p.Tyr23Phe) variant of LBR (Delta(14)-sterol reductase LBR)
Y23F (p.Tyr23Phe) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y23F (p.Tyr23Phe) variant details
- p.Tyr23Phe
- ExAC rs749442728
- TOPMed rs749442728
- gnomAD rs749442728
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.44
- ESM-1b 0.67
- AlphaMissense 0.33
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.07
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available