R15Q (p.Arg15Gln) variant of LBR (Delta(14)-sterol reductase LBR)
R15Q (p.Arg15Gln) 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 0.73 / 1. The record also includes population frequency data and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- rs767247360
- ExAC rs767247360
- gnomAD rs767247360
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available