R49* (p.Arg49Ter) variant of REN (Renin)
R49* (p.Arg49Ter) in REN (Renin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R49* (p.Arg49Ter) variant details
- p.Arg49Ter
- rs121917741
- ClinGen CA122846
- ClinVar RCV000014003
- ClinVar RCV001281274
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (PMID 16116425)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)