S15* (p.Ser15Ter) variant of ETFA (P13804)
S15* (p.Ser15Ter) in ETFA (P13804) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S15* (p.Ser15Ter) variant details
- p.Ser15Ter
- rs1047426224
- ClinGen CA273700384
- NCI-TCGA Cosmic COSV5121
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)