Y23C (p.Tyr23Cys) variant of LBR (Delta(14)-sterol reductase LBR)
Y23C (p.Tyr23Cys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- ExAC rs749442728
- TOPMed rs749442728
- gnomAD rs749442728
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available