G254S (p.Gly254Ser) variant of ACADVL (P49748)
G254S (p.Gly254Ser) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G254S (p.Gly254Ser) variant details
- p.Gly254Ser
- rs765423779
- ClinGen CA8337848
- cosmic curated COSV50040
- ClinVar RCV001200691
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.87
- CADD 28.00
- PolyPhen-2 0.85
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)