Y41C (p.Tyr41Cys) variant of LBR (Delta(14)-sterol reductase LBR)
Y41C (p.Tyr41Cys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Y41C (p.Tyr41Cys) variant details
- p.Tyr41Cys
- gnomAD rs1320764205
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available