G14V (p.Gly14Val) variant of LBR (Delta(14)-sterol reductase LBR)
G14V (p.Gly14Val) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- rs2150960177
- ClinGen CA345003456
- ClinVar RCV001947906
- Ensembl rs2150960177
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available