S9T (p.Ser9Thr) variant of ACADVL (P49748)
S9T (p.Ser9Thr) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S9T (p.Ser9Thr) variant details
- p.Ser9Thr
- rs770590027
- ClinGen CA287433597
- ClinVar RCV003092591
- Ensembl rs770590027
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.17
- CADD 9.26
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)