K47E (p.Lys47Glu) variant of REN (Renin)
K47E (p.Lys47Glu) in REN (Renin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- TOPMed rs1658257989
- gnomAD rs1658257989
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -0.98
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available