E51K (p.Glu51Lys) variant of LBR (Delta(14)-sterol reductase LBR)
E51K (p.Glu51Lys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- rs1177590790
- ClinGen CA345002718
- ClinVar RCV001923375
- TOPMed rs1177590790
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available