R41* (p.Arg41Ter) variant of ETFDH (Q16134)
R41* (p.Arg41Ter) in ETFDH (Q16134) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R41* (p.Arg41Ter) variant details
- p.Arg41Ter
- rs773668457
- ClinGen CA3122278
- ClinVar RCV000699705
- ClinVar RCV001814220
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)