D361G (p.Asp361Gly) variant of ACADVL (P49748)
D361G (p.Asp361Gly) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D361G (p.Asp361Gly) variant details
- p.Asp361Gly
- rs1214845060
- ClinGen CA397724316
- ClinVar RCV001988944
- TOPMed rs1214845060
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.80
- CADD 25.70
- PolyPhen-2 0.32
- SIFT 0.01
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)