W60R (p.Trp60Arg) variant of REN (Renin)
W60R (p.Trp60Arg) 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 0.29 / 1. The record also includes population frequency data and structural context.
W60R (p.Trp60Arg) variant details
- p.Trp60Arg
- ExAC rs764714841
- TOPMed rs764714841
- gnomAD rs764714841
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.02
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available