D53G (p.Asp53Gly) variant of LBR (Delta(14)-sterol reductase LBR)
D53G (p.Asp53Gly) 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 0.94 / 1. The record also includes structural context.
D53G (p.Asp53Gly) variant details
- p.Asp53Gly
- rs2527841563
- ClinGen CA345002654
- ClinVar RCV002824983
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available