R9S (p.Arg9Ser) variant of REN (Renin)
R9S (p.Arg9Ser) in REN (Renin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- 1000Genomes rs115181548
- ExAC rs115181548
- TOPMed rs115181548
- gnomAD rs115181548
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.04
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available