S101* (p.Ser101Ter) variant of UMOD (Uromodulin)
S101* (p.Ser101Ter) in UMOD (Uromodulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S101* (p.Ser101Ter) variant details
- p.Ser101Ter
- rs1310015332
- ClinGen CA394986699
- ClinVar RCV003726147
- ClinVar RCV005013144
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)