G3E (p.Gly3Glu) variant of REN (Renin)
G3E (p.Gly3Glu) in REN (Renin) 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 0.10 / 1. The record also includes population frequency data and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- rs769289753
- ClinGen CA1345094
- ClinVar RCV003550691
- ExAC rs769289753
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.05
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.06
- CADD 0.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available