T38A (p.Thr38Ala) variant of LBR (Delta(14)-sterol reductase LBR)
T38A (p.Thr38Ala) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- TOPMed rs1042815153
- gnomAD rs1042815153
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.39
- ESM-1b 0.48
- AlphaMissense 0.11
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available