R85P (p.Arg85Pro) variant of LBR (Delta(14)-sterol reductase LBR)
R85P (p.Arg85Pro) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R85P (p.Arg85Pro) variant details
- p.Arg85Pro
- ExAC rs758063579
- TOPMed rs758063579
- gnomAD rs758063579
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.74
- CADD 22.30
- PolyPhen-2 0.77
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available