S22P (p.Ser22Pro) variant of ACADVL (P49748)
S22P (p.Ser22Pro) 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 0.60 / 1. The record also includes published literature and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- rs1950796544
- ClinGen CA397722025
- ClinVar RCV003091041
- TOPMed rs1950796544
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.07
- MetaLR 0.81
- MetaSVM 0.27
- PolyPhen-2 0.61
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)