S74Y (p.Ser74Tyr) variant of REN (Renin)
S74Y (p.Ser74Tyr) in REN (Renin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S74Y (p.Ser74Tyr) variant details
- p.Ser74Tyr
- 1000Genomes rs536696119
- ExAC rs536696119
- TOPMed rs536696119
- gnomAD rs536696119
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -0.97
- CADD 21.30
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available