Q160R (p.Gln160Arg) variant of REN (Renin)
Q160R (p.Gln160Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q160R (p.Gln160Arg) variant details
- p.Gln160Arg
- rs367805555
- ClinGen CA1344934
- ClinVar RCV002669519
- ClinVar RCV005059203
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.23
- MetaLR 0.19
- MetaSVM -0.86
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs11571083)
- UniProt: Uncertain significance (in dbSNP:rs11571083)
- 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)