I77S (p.Ile77Ser) variant of REN (Renin)
I77S (p.Ile77Ser) 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 of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I77S (p.Ile77Ser) variant details
- p.Ile77Ser
- rs574100052
- ClinGen CA1345024
- ClinVar RCV001751880
- ClinVar RCV002488532
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -0.98
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 2; Renal tubula)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)