R119H (p.Arg119His) variant of REN (Renin)
R119H (p.Arg119His) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R119H (p.Arg119His) variant details
- p.Arg119His
- rs376156157
- ClinGen CA1344975
- cosmic curated COSV65817
- ClinVar RCV002650200
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -0.96
- CADD 25.60
- PolyPhen-2 0.62
- SIFT 0.40
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)