T178M (p.Thr178Met) variant of REN (Renin)
T178M (p.Thr178Met) 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; Familial juvenile hyperuricemic nephropathy type 2; Renal tubular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T178M (p.Thr178Met) variant details
- p.Thr178Met
- rs147436851
- ClinGen CA1344895
- cosmic curated COSV10723
- ClinVar RCV001928428
- Uncertain significance
- not provided; Familial juvenile hyperuricemic nephropathy type 2; Renal tubular
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.33
- MetaLR 0.33
- MetaSVM -0.46
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Familial juvenile hyperuricemic nephropathy type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00018)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)