E48D (p.Glu48Asp) variant of REN (Renin)
E48D (p.Glu48Asp) in REN (Renin) is a missense change. 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.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- ExAC rs748270341
- gnomAD rs748270341
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.03
- MetaLR 0.12
- MetaSVM -1.08
- CADD 13.90
- PolyPhen-2 0.19
- SIFT 0.41
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available