A109G (p.Ala109Gly) variant of LBR (Delta(14)-sterol reductase LBR)
A109G (p.Ala109Gly) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A109G (p.Ala109Gly) variant details
- p.Ala109Gly
- 1000Genomes rs568717962
- ExAC rs568717962
- TOPMed rs568717962
- gnomAD rs568717962
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.78
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available