S20L (p.Ser20Leu) variant of LBR (Delta(14)-sterol reductase LBR)
S20L (p.Ser20Leu) 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 0.56 / 1. The record also includes population frequency data and structural context.
S20L (p.Ser20Leu) variant details
- p.Ser20Leu
- rs1190304682
- gnomAD rs1190304682
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 26.30
- PolyPhen-2 0.54
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available