G65D (p.Gly65Asp) variant of LBR (Delta(14)-sterol reductase LBR)
G65D (p.Gly65Asp) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
G65D (p.Gly65Asp) variant details
- p.Gly65Asp
- cosmic curated COSV55288
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- ESM-1b 0.00
- AlphaMissense 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available