H127R (p.His127Arg) variant of REN (Renin)
H127R (p.His127Arg) in REN (Renin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H127R (p.His127Arg) variant details
- p.His127Arg
- ExAC rs779295984
- gnomAD rs779295984
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.57
- MetaLR 0.41
- MetaSVM -0.05
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available