R21* (p.Arg21Ter) variant of ETFB (P38117)
R21* (p.Arg21Ter) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R21* (p.Arg21Ter) variant details
- p.Arg21Ter
- rs374288379
- ClinGen CA9610876
- cosmic curated COSV58535
- ClinVar RCV003476354
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 36.00
- PolyPhen-2 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)