R85* (p.Arg85Ter) variant of ETFB (P38117)
R85* (p.Arg85Ter) in ETFB (P38117) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R85* (p.Arg85Ter) variant details
- p.Arg85Ter
- rs187424345
- ClinGen CA9610811
- ClinVar RCV001244975
- 1000Genomes rs187424345
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)