E43K (p.Glu43Lys) variant of AGT (Angiotensinogen)
E43K (p.Glu43Lys) in AGT (Angiotensinogen) 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 0.37 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- rs760531325
- NCI-TCGA Cosmic COSV6418
- ExAC rs760531325
- TOPMed rs760531325
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available