A109T (p.Ala109Thr) variant of LBR (Delta(14)-sterol reductase LBR)
A109T (p.Ala109Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A109T (p.Ala109Thr) variant details
- p.Ala109Thr
- cosmic curated COSV10505
- ExAC rs778823931
- gnomAD rs778823931
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 5.18
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available