S22* (p.Ser22Ter) variant of ACADVL (P49748)
S22* (p.Ser22Ter) in ACADVL (P49748) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- rs727503788
- ClinGen CA233425
- ClinVar RCV000152732
- ClinVar RCV000985184
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)