E26G (p.Glu26Gly) variant of LBR (Delta(14)-sterol reductase LBR)
E26G (p.Glu26Gly) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- gnomAD rs1268100510
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 27.70
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available