L49S (p.Leu49Ser) variant of LBR (Delta(14)-sterol reductase LBR)
L49S (p.Leu49Ser) 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 1.00 / 1. The record also includes structural context.
L49S (p.Leu49Ser) variant details
- p.Leu49Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available