S22W (p.Ser22Trp) variant of ACADVL (P49748)
S22W (p.Ser22Trp) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S22W (p.Ser22Trp) variant details
- p.Ser22Trp
- rs727503788
- ClinGen CA397722027
- ClinVar RCV002037005
- 1000Genomes rs727503788
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.38
- CADD 24.50
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)