E59K (p.Glu59Lys) variant of REN (Renin)
E59K (p.Glu59Lys) in REN (Renin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- cosmic curated COSV65818
- ExAC rs752391620
- TOPMed rs752391620
- gnomAD rs752391620
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.04
- CADD 10.80
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available