A182T (p.Ala182Thr) variant of REN (Renin)
A182T (p.Ala182Thr) 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; Renal tubular dysgenesis of genetic origin; Familial juvenile hype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A182T (p.Ala182Thr) variant details
- p.Ala182Thr
- cosmic curated COSV10584
- TOPMed rs1457497079
- gnomAD rs1457497079
- Uncertain significance
- not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.06
- CADD 3.00
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; Renal tubular dysgenesis of genetic origin; Famili)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available