R43* (p.Arg43Ter) variant of REN (Renin)
R43* (p.Arg43Ter) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R43* (p.Arg43Ter) variant details
- p.Arg43Ter
- rs397514690
- ClinGen CA143703
- cosmic curated COSV10640
- ClinVar RCV000043472
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. (PMID 22095942)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)