E114K (p.Glu114Lys) variant of LBR (Delta(14)-sterol reductase LBR)
E114K (p.Glu114Lys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E114K (p.Glu114Lys) variant details
- p.Glu114Lys
- cosmic curated COSV10723
- NCI-TCGA TCGA novel
- gnomAD rs2096128363
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.00
- PolyPhen-2 0.28
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available