E24K (p.Glu24Lys) variant of LBR (Delta(14)-sterol reductase LBR)
E24K (p.Glu24Lys) 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 0.80 / 1. The record also includes structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- NCI-TCGA Cosmic COSV5528
- cosmic curated COSV55287
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- ESM-1b 1.00
- AlphaMissense 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available