Q172E (p.Gln172Glu) variant of REN (Renin)
Q172E (p.Gln172Glu) in REN (Renin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q172E (p.Gln172Glu) variant details
- p.Gln172Glu
- ESP rs139795475
- TOPMed rs139795475
- gnomAD rs139795475
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.64
- MetaLR 0.61
- MetaSVM 0.55
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available