E48A (p.Glu48Ala) variant of LBR (Delta(14)-sterol reductase LBR)
E48A (p.Glu48Ala) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
E48A (p.Glu48Ala) variant details
- p.Glu48Ala
- NCI-TCGA Cosmic COSV5528
- cosmic curated COSV55289
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- ESM-1b 1.00
- AlphaMissense 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available