R71* (p.Arg71Ter) variant of HFE (Q30201)
R71* (p.Arg71Ter) in HFE (Q30201) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R71* (p.Arg71Ter) variant details
- p.Arg71Ter
- rs759524388
- ClinGen CA3666612
- ClinVar RCV001387126
- ClinVar RCV003127860
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Screening for hemochromatosis: recommendation statement. (PMID 16880462)
- Cited in: HFE-Related Hemochromatosis. (PMID 20301613)