K40R (p.Lys40Arg) variant of LBR (Delta(14)-sterol reductase LBR)
K40R (p.Lys40Arg) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- ExAC rs755810631
- TOPMed rs755810631
- gnomAD rs755810631
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.30
- PolyPhen-2 0.27
- SIFT 0.50
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available