T38I (p.Thr38Ile) variant of LBR (Delta(14)-sterol reductase LBR)
T38I (p.Thr38Ile) 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 0.51 / 1. The record also includes population frequency data and structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- rs555819295
- ClinGen CA38521712
- ClinVar RCV001811833
- ExAC rs555819295
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 24.30
- PolyPhen-2 0.81
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available