K42R (p.Lys42Arg) variant of LBR (Delta(14)-sterol reductase LBR)
K42R (p.Lys42Arg) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- TOPMed rs1249866637
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- ESM-1b 0.84
- AlphaMissense 0.11
- Structural context available