T84N (p.Thr84Asn) variant of REN (Renin)
T84N (p.Thr84Asn) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes population frequency data and structural context.
T84N (p.Thr84Asn) variant details
- p.Thr84Asn
- rs370001090
- ClinGen CA1344991
- ClinVar RCV003083827
- 1000Genomes rs370001090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.85
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available