K53* (p.Lys53Ter) variant of ETFDH (Q16134)
K53* (p.Lys53Ter) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K53* (p.Lys53Ter) variant details
- p.Lys53Ter
- rs878853006
- ClinGen CA10581271
- ClinVar RCV000224742
- ClinVar RCV003624410
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)