E89D (p.Glu89Asp) variant of REN (Renin)
E89D (p.Glu89Asp) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 2; Ren. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E89D (p.Glu89Asp) variant details
- p.Glu89Asp
- rs886045835
- ClinGen CA10608796
- ClinVar RCV000266537
- ClinVar RCV000305365
- Uncertain significance
- Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 2; Ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.26
- MetaLR 0.21
- MetaSVM -0.81
- CADD 23.80
- PolyPhen-2 0.53
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial juvenile hyperuricemic nephrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- 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)