R33* (p.Arg33Ter) variant of HADHB (P55084)
R33* (p.Arg33Ter) in HADHB (P55084) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R33* (p.Arg33Ter) variant details
- p.Arg33Ter
- rs752264795
- ClinGen CA1560084
- ClinVar RCV001389145
- ClinVar RCV004570969
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)