I77T (p.Ile77Thr) variant of REN (Renin)
I77T (p.Ile77Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
I77T (p.Ile77Thr) variant details
- p.Ile77Thr
- 1000Genomes rs574100052
- ExAC rs574100052
- TOPMed rs574100052
- gnomAD rs574100052
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.04
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available