T79S (p.Thr79Ser) variant of REN (Renin)
T79S (p.Thr79Ser) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T79S (p.Thr79Ser) variant details
- p.Thr79Ser
- ExAC rs778600672
- TOPMed rs778600672
- gnomAD rs778600672
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -1.04
- CADD 21.90
- PolyPhen-2 0.11
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available