E144Q (p.Glu144Gln) variant of REN (Renin)
E144Q (p.Glu144Gln) in REN (Renin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E144Q (p.Glu144Gln) variant details
- p.Glu144Gln
- ExAC rs770516061
- gnomAD rs770516061
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -0.99
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available