G65C (p.Gly65Cys) variant of LBR (Delta(14)-sterol reductase LBR)
G65C (p.Gly65Cys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G65C (p.Gly65Cys) variant details
- p.Gly65Cys
- ExAC rs765365854
- gnomAD rs765365854
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.30
- ESM-1b 0.86
- AlphaMissense 0.10
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available