Q65* (p.Gln65Ter) variant of ETFA (P13804)
Q65* (p.Gln65Ter) in ETFA (P13804) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q65* (p.Gln65Ter) variant details
- p.Gln65Ter
- rs1297718024
- ClinGen CA393517447
- ClinVar RCV003475599
- ClinVar RCV006642848
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)