E89K (p.Glu89Lys) variant of REN (Renin)
E89K (p.Glu89Lys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E89K (p.Glu89Lys) variant details
- p.Glu89Lys
- rs201438857
- ClinGen CA1344986
- ClinVar RCV002694971
- ClinVar RCV003365773
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.39
- MetaLR 0.37
- MetaSVM -0.34
- CADD 27.50
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)