I106T (p.Ile106Thr) variant of LBR (Delta(14)-sterol reductase LBR)
I106T (p.Ile106Thr) in LBR (Delta(14)-sterol reductase LBR) is a missense change. 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.
I106T (p.Ile106Thr) variant details
- p.Ile106Thr
- Ensembl rs2096128416
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available