T164N (p.Thr164Asn) variant of REN (Renin)
T164N (p.Thr164Asn) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph. 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.
T164N (p.Thr164Asn) variant details
- p.Thr164Asn
- ExAC rs780104854
- TOPMed rs780104854
- gnomAD rs780104854
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.85
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; Familial juvenile hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available