E46A (p.Glu46Ala) variant of LBR (Delta(14)-sterol reductase LBR)
E46A (p.Glu46Ala) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E46A (p.Glu46Ala) variant details
- p.Glu46Ala
- ExAC rs767302539
- gnomAD rs767302539
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available