A109V (p.Ala109Val) variant of LBR (Delta(14)-sterol reductase LBR)
A109V (p.Ala109Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
A109V (p.Ala109Val) variant details
- p.Ala109Val
- 1000Genomes rs568717962
- ExAC rs568717962
- TOPMed rs568717962
- gnomAD rs568717962
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available