R63S (p.Arg63Ser) variant of LBR (Delta(14)-sterol reductase LBR)
R63S (p.Arg63Ser) 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 0.49 / 1. The record also includes population frequency data and structural context.
R63S (p.Arg63Ser) variant details
- p.Arg63Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.75
- CADD 22.40
- PolyPhen-2 0.14
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available