R81K (p.Arg81Lys) variant of LBR (Delta(14)-sterol reductase LBR)
R81K (p.Arg81Lys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R81K (p.Arg81Lys) variant details
- p.Arg81Lys
- TOPMed rs2096128790
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.42
- ESM-1b 0.29
- AlphaMissense 0.42
- CADD 23.30
- PolyPhen-2 0.55
- SIFT 0.24
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available