T79I (p.Thr79Ile) variant of REN (Renin)
T79I (p.Thr79Ile) 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 0.26 / 1. The record also includes population frequency data and structural context.
T79I (p.Thr79Ile) variant details
- p.Thr79Ile
- rs778600672
- ClinGen CA344341511
- ClinVar RCV002301362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.97
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available