K5E (p.Lys5Glu) variant of LBR (Delta(14)-sterol reductase LBR)
K5E (p.Lys5Glu) 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 0.72 / 1. The record also includes population frequency data and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- rs2096134191
- ClinGen CA345003732
- ClinVar RCV002600582
- TOPMed rs2096134191
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.53
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available