Y22C (p.Tyr22Cys) variant of LBR (Delta(14)-sterol reductase LBR)
Y22C (p.Tyr22Cys) 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.
Y22C (p.Tyr22Cys) variant details
- p.Tyr22Cys
- ExAC rs768631027
- gnomAD rs768631027
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available