K55* (p.Lys55Ter) variant of ETFB (P38117)
K55* (p.Lys55Ter) in ETFB (P38117) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K55* (p.Lys55Ter) variant details
- p.Lys55Ter
- rs2514155556
- ClinGen CA407083166
- ClinVar RCV003476352
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 41.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)