S35* (p.Ser35Ter) variant of ETFDH (Q16134)
S35* (p.Ser35Ter) in ETFDH (Q16134) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S35* (p.Ser35Ter) variant details
- p.Ser35Ter
- rs2479076127
- ClinGen CA358573406
- ClinVar RCV003476378
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)