T118I (p.Thr118Ile) variant of LBR (Delta(14)-sterol reductase LBR)
T118I (p.Thr118Ile) 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 Greenberg dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T118I (p.Thr118Ile) variant details
- p.Thr118Ile
- rs138380180
- ClinGen CA38520312
- ClinVar RCV001102487
- ESP rs138380180
- Uncertain significance
- Greenberg dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Greenberg dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available