E114K (p.Glu114Lys) variant of LRP4 (O75096)
E114K (p.Glu114Lys) in LRP4 (O75096) 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 0.81 / 1. The record also includes population frequency data and structural context.
E114K (p.Glu114Lys) variant details
- p.Glu114Lys
- rs771377480
- NCI-TCGA Cosmic COSV6613
- ExAC rs771377480
- gnomAD rs771377480
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.95
- MetaLR 0.85
- MetaSVM 0.80
- PolyPhen-2 0.49
- SIFT 0.08
- MutPred 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available