G106A (p.Gly106Ala) variant of REN (Renin)
G106A (p.Gly106Ala) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
G106A (p.Gly106Ala) variant details
- p.Gly106Ala
- rs1658242853
- ClinGen CA344341286
- ClinVar RCV001096285
- ClinVar RCV001096286
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.33
- MetaLR 0.80
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 2; Renal tubula)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)