T38S (p.Thr38Ser) variant of LBR (Delta(14)-sterol reductase LBR)
T38S (p.Thr38Ser) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T38S (p.Thr38Ser) variant details
- p.Thr38Ser
- TOPMed rs1042815153
- gnomAD rs1042815153
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.70
- PolyPhen-2 0.47
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available